SNP Links for Protein (Select 1034639975) - SNP

Links from Protein

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Select item 14899600781.

rs1489960078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:185445076 (GRCh38)
4:186366230 (GRCh37)
Canonical SPDI:: NC_000004.12:185445075:C:A,NC_000004.12:185445075:C:T
Gene:: CCDC110 (Varview), C4orf47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185445076C>A, NC_000004.12:g.185445076C>T, NC_000004.11:g.186366230C>A, NC_000004.11:g.186366230C>T, XM_011531989.3:c.827C>A, XM_011531989.3:c.827C>T, XM_011531989.2:c.827C>A, XM_011531989.2:c.827C>T, XM_011531989.1:c.827C>A, XM_011531989.1:c.827C>T, NM_001114357.3:c.827C>A, NM_001114357.3:c.827C>T, NM_001114357.2:c.827C>A, NM_001114357.2:c.827C>T, NM_001114357.1:c.827C>A, NM_001114357.1:c.827C>T, XM_017008239.2:c.827C>A, XM_017008239.2:c.827C>T, XM_017008239.1:c.827C>A, XM_017008239.1:c.827C>T, XM_017008238.2:c.827C>A, XM_017008238.2:c.827C>T, XM_017008238.1:c.827C>A, XM_017008238.1:c.827C>T, XM_017008240.2:c.827C>A, XM_017008240.2:c.827C>T, XM_017008240.1:c.827C>A, XM_017008240.1:c.827C>T, NM_001346007.2:c.449C>A, NM_001346007.2:c.449C>T, NM_001346007.1:c.449C>A, NM_001346007.1:c.449C>T, XM_047415721.1:c.449C>A, XM_047415721.1:c.449C>T, XM_047415719.1:c.827C>A, XM_047415719.1:c.827C>T, XM_047415718.1:c.827C>A, XM_047415718.1:c.827C>T, XM_047415720.1:c.449C>A, XM_047415720.1:c.449C>T, XP_011530291.1:p.Pro276Gln, XP_011530291.1:p.Pro276Leu, NP_001107829.1:p.Pro276Gln, NP_001107829.1:p.Pro276Leu, XP_016863728.1:p.Pro276Gln, XP_016863728.1:p.Pro276Leu, XP_016863727.1:p.Pro276Gln, XP_016863727.1:p.Pro276Leu, XP_016863729.1:p.Pro276Gln, XP_016863729.1:p.Pro276Leu, NP_001332936.1:p.Pro150Gln, NP_001332936.1:p.Pro150Leu, XP_047271677.1:p.Pro150Gln, XP_047271677.1:p.Pro150Leu, XP_047271675.1:p.Pro276Gln, XP_047271675.1:p.Pro276Leu, XP_047271674.1:p.Pro276Gln, XP_047271674.1:p.Pro276Leu, XP_047271676.1:p.Pro150Gln, XP_047271676.1:p.Pro150Leu

Select item 14865271282.

rs1486527128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:185440601 (GRCh38)
4:186361755 (GRCh37)
Canonical SPDI:: NC_000004.12:185440600:C:A,NC_000004.12:185440600:C:T
Gene:: C4orf47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185440601C>A, NC_000004.12:g.185440601C>T, NC_000004.11:g.186361755C>A, NC_000004.11:g.186361755C>T, XM_011531989.3:c.596C>A, XM_011531989.3:c.596C>T, XM_011531989.2:c.596C>A, XM_011531989.2:c.596C>T, XM_011531989.1:c.596C>A, XM_011531989.1:c.596C>T, NM_001114357.3:c.596C>A, NM_001114357.3:c.596C>T, NM_001114357.2:c.596C>A, NM_001114357.2:c.596C>T, NM_001114357.1:c.596C>A, NM_001114357.1:c.596C>T, XM_017008239.2:c.596C>A, XM_017008239.2:c.596C>T, XM_017008239.1:c.596C>A, XM_017008239.1:c.596C>T, XM_017008238.2:c.596C>A, XM_017008238.2:c.596C>T, XM_017008238.1:c.596C>A, XM_017008238.1:c.596C>T, XM_017008240.2:c.596C>A, XM_017008240.2:c.596C>T, XM_017008240.1:c.596C>A, XM_017008240.1:c.596C>T, NM_001346007.2:c.218C>A, NM_001346007.2:c.218C>T, NM_001346007.1:c.218C>A, NM_001346007.1:c.218C>T, XM_047415721.1:c.218C>A, XM_047415721.1:c.218C>T, XM_047415722.1:c.*10C>A, XM_047415722.1:c.*10C>T, XM_047415719.1:c.596C>A, XM_047415719.1:c.596C>T, XM_047415718.1:c.596C>A, XM_047415718.1:c.596C>T, XM_047415720.1:c.218C>A, XM_047415720.1:c.218C>T, XP_011530291.1:p.Pro199Gln, XP_011530291.1:p.Pro199Leu, NP_001107829.1:p.Pro199Gln, NP_001107829.1:p.Pro199Leu, XP_016863728.1:p.Pro199Gln, XP_016863728.1:p.Pro199Leu, XP_016863727.1:p.Pro199Gln, XP_016863727.1:p.Pro199Leu, XP_016863729.1:p.Pro199Gln, XP_016863729.1:p.Pro199Leu, NP_001332936.1:p.Pro73Gln, NP_001332936.1:p.Pro73Leu, XP_047271677.1:p.Pro73Gln, XP_047271677.1:p.Pro73Leu, XP_047271675.1:p.Pro199Gln, XP_047271675.1:p.Pro199Leu, XP_047271674.1:p.Pro199Gln, XP_047271674.1:p.Pro199Leu, XP_047271676.1:p.Pro73Gln, XP_047271676.1:p.Pro73Leu

Select item 14849250713.

rs1484925071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185432162 (GRCh38)
4:186353316 (GRCh37)
Canonical SPDI:: NC_000004.12:185432161:T:C
Gene:: C4orf47 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.185432162T>C, NC_000004.11:g.186353316T>C, XM_011531989.3:c.281T>C, XM_011531989.2:c.281T>C, XM_011531989.1:c.281T>C, NM_001114357.3:c.281T>C, NM_001114357.2:c.281T>C, NM_001114357.1:c.281T>C, XM_017008239.2:c.281T>C, XM_017008239.1:c.281T>C, XM_017008238.2:c.281T>C, XM_017008238.1:c.281T>C, XM_017008240.2:c.281T>C, XM_017008240.1:c.281T>C, XM_047415722.1:c.281T>C, XM_047415719.1:c.281T>C, XM_047415718.1:c.281T>C, XP_011530291.1:p.Leu94Pro, NP_001107829.1:p.Leu94Pro, XP_016863728.1:p.Leu94Pro, XP_016863727.1:p.Leu94Pro, XP_016863729.1:p.Leu94Pro, XP_047271678.1:p.Leu94Pro, XP_047271675.1:p.Leu94Pro, XP_047271674.1:p.Leu94Pro

Select item 14776041964.

rs1477604196 has merged into rs564059162 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:185432152 (GRCh38)
4:186353306 (GRCh37)
Canonical SPDI:: NC_000004.12:185432151:AAAAAAAA:AAAAAAA,NC_000004.12:185432151:AAAAAAAA:AAAAAAAAA
Gene:: C4orf47 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.000434/10 (ALFA)
A=0./0 (PAGE_STUDY)
-=0.000799/4 (1000Genomes)
-=0.000913/140 (GnomAD_exomes)
-=0.001625/10 (GoESP)
-=0.001962/43 (ExAC)
HGVS:: NC_000004.12:g.185432159del, NC_000004.12:g.185432159dup, NC_000004.11:g.186353313del, NC_000004.11:g.186353313dup, XM_011531989.3:c.278del, XM_011531989.3:c.278dup, XM_011531989.2:c.278del, XM_011531989.2:c.278dup, XM_011531989.1:c.278del, XM_011531989.1:c.278dup, NM_001114357.3:c.278del, NM_001114357.3:c.278dup, NM_001114357.2:c.278del, NM_001114357.2:c.278dup, NM_001114357.1:c.278del, NM_001114357.1:c.278dup, XM_017008239.2:c.278del, XM_017008239.2:c.278dup, XM_017008239.1:c.278del, XM_017008239.1:c.278dup, XM_017008238.2:c.278del, XM_017008238.2:c.278dup, XM_017008238.1:c.278del, XM_017008238.1:c.278dup, XM_017008240.2:c.278del, XM_017008240.2:c.278dup, XM_017008240.1:c.278del, XM_017008240.1:c.278dup, XM_047415722.1:c.278del, XM_047415722.1:c.278dup, XM_047415719.1:c.278del, XM_047415719.1:c.278dup, XM_047415718.1:c.278del, XM_047415718.1:c.278dup, XP_011530291.1:p.Asn93fs, XP_011530291.1:p.Asn93fs, NP_001107829.1:p.Asn93fs, NP_001107829.1:p.Asn93fs, XP_016863728.1:p.Asn93fs, XP_016863728.1:p.Asn93fs, XP_016863727.1:p.Asn93fs, XP_016863727.1:p.Asn93fs, XP_016863729.1:p.Asn93fs, XP_016863729.1:p.Asn93fs, XP_047271678.1:p.Asn93fs, XP_047271678.1:p.Asn93fs, XP_047271675.1:p.Asn93fs, XP_047271675.1:p.Asn93fs, XP_047271674.1:p.Asn93fs, XP_047271674.1:p.Asn93fs

Select item 14751942635.

rs1475194263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:185445068 (GRCh38)
4:186366222 (GRCh37)
Canonical SPDI:: NC_000004.12:185445067:C:G
Gene:: CCDC110 (Varview), C4orf47 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185445068C>G, NC_000004.11:g.186366222C>G, XM_011531989.3:c.819C>G, XM_011531989.2:c.819C>G, XM_011531989.1:c.819C>G, NM_001114357.3:c.819C>G, NM_001114357.2:c.819C>G, NM_001114357.1:c.819C>G, XM_017008239.2:c.819C>G, XM_017008239.1:c.819C>G, XM_017008238.2:c.819C>G, XM_017008238.1:c.819C>G, XM_017008240.2:c.819C>G, XM_017008240.1:c.819C>G, NM_001346007.2:c.441C>G, NM_001346007.1:c.441C>G, XM_047415721.1:c.441C>G, XM_047415719.1:c.819C>G, XM_047415718.1:c.819C>G, XM_047415720.1:c.441C>G, XP_011530291.1:p.Phe273Leu, NP_001107829.1:p.Phe273Leu, XP_016863728.1:p.Phe273Leu, XP_016863727.1:p.Phe273Leu, XP_016863729.1:p.Phe273Leu, NP_001332936.1:p.Phe147Leu, XP_047271677.1:p.Phe147Leu, XP_047271675.1:p.Phe273Leu, XP_047271674.1:p.Phe273Leu, XP_047271676.1:p.Phe147Leu

Select item 14736245266.

rs1473624526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:185449607 (GRCh38)
4:186370761 (GRCh37)
Canonical SPDI:: NC_000004.12:185449606:C:G
Gene:: CCDC110 (Varview), C4orf47 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185449607C>G, NC_000004.11:g.186370761C>G, XM_011531989.3:c.893C>G, XM_011531989.2:c.893C>G, XM_011531989.1:c.893C>G, NM_001114357.3:c.893C>G, NM_001114357.2:c.893C>G, NM_001114357.1:c.893C>G, XM_017008239.2:c.893C>G, XM_017008239.1:c.893C>G, XM_017008238.2:c.893C>G, XM_017008238.1:c.893C>G, XM_017008240.2:c.893C>G, XM_017008240.1:c.893C>G, NM_001346007.2:c.515C>G, NM_001346007.1:c.515C>G, XM_047415721.1:c.515C>G, XM_047415719.1:c.893C>G, XM_047415718.1:c.893C>G, XM_047415720.1:c.515C>G, XP_011530291.1:p.Ser298Ter, NP_001107829.1:p.Ser298Ter, XP_016863728.1:p.Ser298Ter, XP_016863727.1:p.Ser298Ter, XP_016863729.1:p.Ser298Ter, NP_001332936.1:p.Ser172Ter, XP_047271677.1:p.Ser172Ter, XP_047271675.1:p.Ser298Ter, XP_047271674.1:p.Ser298Ter, XP_047271676.1:p.Ser172Ter

Select item 14698884827.

rs1469888482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:185432057 (GRCh38)
4:186353211 (GRCh37)
Canonical SPDI:: NC_000004.12:185432056:C:A
Gene:: C4orf47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185432057C>A, NC_000004.11:g.186353211C>A, XM_011531989.3:c.176C>A, XM_011531989.2:c.176C>A, XM_011531989.1:c.176C>A, NM_001114357.3:c.176C>A, NM_001114357.2:c.176C>A, NM_001114357.1:c.176C>A, XM_017008239.2:c.176C>A, XM_017008239.1:c.176C>A, XM_017008238.2:c.176C>A, XM_017008238.1:c.176C>A, XM_017008240.2:c.176C>A, XM_017008240.1:c.176C>A, XM_047415722.1:c.176C>A, XM_047415719.1:c.176C>A, XM_047415718.1:c.176C>A, XP_011530291.1:p.Ala59Glu, NP_001107829.1:p.Ala59Glu, XP_016863728.1:p.Ala59Glu, XP_016863727.1:p.Ala59Glu, XP_016863729.1:p.Ala59Glu, XP_047271678.1:p.Ala59Glu, XP_047271675.1:p.Ala59Glu, XP_047271674.1:p.Ala59Glu

Select item 14668973398.

rs1466897339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185449601 (GRCh38)
4:186370755 (GRCh37)
Canonical SPDI:: NC_000004.12:185449600:T:C
Gene:: CCDC110 (Varview), C4orf47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185449601T>C, NC_000004.11:g.186370755T>C, XM_011531989.3:c.887T>C, XM_011531989.2:c.887T>C, XM_011531989.1:c.887T>C, NM_001114357.3:c.887T>C, NM_001114357.2:c.887T>C, NM_001114357.1:c.887T>C, XM_017008239.2:c.887T>C, XM_017008239.1:c.887T>C, XM_017008238.2:c.887T>C, XM_017008238.1:c.887T>C, XM_017008240.2:c.887T>C, XM_017008240.1:c.887T>C, NM_001346007.2:c.509T>C, NM_001346007.1:c.509T>C, XM_047415721.1:c.509T>C, XM_047415719.1:c.887T>C, XM_047415718.1:c.887T>C, XM_047415720.1:c.509T>C, XP_011530291.1:p.Leu296Pro, NP_001107829.1:p.Leu296Pro, XP_016863728.1:p.Leu296Pro, XP_016863727.1:p.Leu296Pro, XP_016863729.1:p.Leu296Pro, NP_001332936.1:p.Leu170Pro, XP_047271677.1:p.Leu170Pro, XP_047271675.1:p.Leu296Pro, XP_047271674.1:p.Leu296Pro, XP_047271676.1:p.Leu170Pro

Select item 14641936589.

rs1464193658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185436340 (GRCh38)
4:186357494 (GRCh37)
Canonical SPDI:: NC_000004.12:185436339:C:T
Gene:: C4orf47 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.185436340C>T, NC_000004.11:g.186357494C>T, XM_011531989.3:c.515C>T, XM_011531989.2:c.515C>T, XM_011531989.1:c.515C>T, NM_001114357.3:c.515C>T, NM_001114357.2:c.515C>T, NM_001114357.1:c.515C>T, XM_017008239.2:c.515C>T, XM_017008239.1:c.515C>T, XM_017008238.2:c.515C>T, XM_017008238.1:c.515C>T, XM_017008240.2:c.515C>T, XM_017008240.1:c.515C>T, XM_047415719.1:c.515C>T, XM_047415718.1:c.515C>T, XP_011530291.1:p.Ala172Val, NP_001107829.1:p.Ala172Val, XP_016863728.1:p.Ala172Val, XP_016863727.1:p.Ala172Val, XP_016863729.1:p.Ala172Val, XP_047271675.1:p.Ala172Val, XP_047271674.1:p.Ala172Val

Select item 146361999610.

rs1463619996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:185449637 (GRCh38)
4:186370791 (GRCh37)
Canonical SPDI:: NC_000004.12:185449636:C:G
Gene:: CCDC110 (Varview), C4orf47 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185449637C>G, NC_000004.11:g.186370791C>G, XM_011531989.3:c.923C>G, XM_011531989.2:c.923C>G, XM_011531989.1:c.923C>G, NM_001114357.3:c.923C>G, NM_001114357.2:c.923C>G, NM_001114357.1:c.923C>G, XM_017008239.2:c.923C>G, XM_017008239.1:c.923C>G, XM_017008238.2:c.923C>G, XM_017008238.1:c.923C>G, XM_017008240.2:c.923C>G, XM_017008240.1:c.923C>G, NM_001346007.2:c.545C>G, NM_001346007.1:c.545C>G, XM_047415721.1:c.545C>G, XM_047415719.1:c.923C>G, XM_047415718.1:c.923C>G, XM_047415720.1:c.545C>G, XP_011530291.1:p.Ser308Cys, NP_001107829.1:p.Ser308Cys, XP_016863728.1:p.Ser308Cys, XP_016863727.1:p.Ser308Cys, XP_016863729.1:p.Ser308Cys, NP_001332936.1:p.Ser182Cys, XP_047271677.1:p.Ser182Cys, XP_047271675.1:p.Ser308Cys, XP_047271674.1:p.Ser308Cys, XP_047271676.1:p.Ser182Cys

Select item 146248004611.

rs1462480046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185436292 (GRCh38)
4:186357446 (GRCh37)
Canonical SPDI:: NC_000004.12:185436291:A:G
Gene:: C4orf47 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185436292A>G, NC_000004.11:g.186357446A>G, XM_011531989.3:c.467A>G, XM_011531989.2:c.467A>G, XM_011531989.1:c.467A>G, NM_001114357.3:c.467A>G, NM_001114357.2:c.467A>G, NM_001114357.1:c.467A>G, XM_017008239.2:c.467A>G, XM_017008239.1:c.467A>G, XM_017008238.2:c.467A>G, XM_017008238.1:c.467A>G, XM_017008240.2:c.467A>G, XM_017008240.1:c.467A>G, XM_047415719.1:c.467A>G, XM_047415718.1:c.467A>G, XP_011530291.1:p.Asn156Ser, NP_001107829.1:p.Asn156Ser, XP_016863728.1:p.Asn156Ser, XP_016863727.1:p.Asn156Ser, XP_016863729.1:p.Asn156Ser, XP_047271675.1:p.Asn156Ser, XP_047271674.1:p.Asn156Ser

Select item 146049127512.

rs1460491275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185444983 (GRCh38)
4:186366137 (GRCh37)
Canonical SPDI:: NC_000004.12:185444982:G:A
Gene:: CCDC110 (Varview), C4orf47 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185444983G>A, NC_000004.11:g.186366137G>A, XM_011531989.3:c.734G>A, XM_011531989.2:c.734G>A, XM_011531989.1:c.734G>A, NM_001114357.3:c.734G>A, NM_001114357.2:c.734G>A, NM_001114357.1:c.734G>A, XM_017008239.2:c.734G>A, XM_017008239.1:c.734G>A, XM_017008238.2:c.734G>A, XM_017008238.1:c.734G>A, XM_017008240.2:c.734G>A, XM_017008240.1:c.734G>A, NM_001346007.2:c.356G>A, NM_001346007.1:c.356G>A, XM_047415721.1:c.356G>A, XM_047415719.1:c.734G>A, XM_047415718.1:c.734G>A, XM_047415720.1:c.356G>A, XP_011530291.1:p.Gly245Glu, NP_001107829.1:p.Gly245Glu, XP_016863728.1:p.Gly245Glu, XP_016863727.1:p.Gly245Glu, XP_016863729.1:p.Gly245Glu, NP_001332936.1:p.Gly119Glu, XP_047271677.1:p.Gly119Glu, XP_047271675.1:p.Gly245Glu, XP_047271674.1:p.Gly245Glu, XP_047271676.1:p.Gly119Glu

Select item 145650952213.

rs1456509522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185429423 (GRCh38)
4:186350577 (GRCh37)
Canonical SPDI:: NC_000004.12:185429422:A:G
Gene:: C4orf47 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.185429423A>G, NC_000004.11:g.186350577A>G, NG_051609.1:g.1563T>C, XM_011531989.3:c.12A>G, XM_011531989.2:c.12A>G, XM_011531989.1:c.12A>G, NM_001114357.3:c.12A>G, NM_001114357.2:c.12A>G, NM_001114357.1:c.12A>G, XM_017008239.2:c.12A>G, XM_017008239.1:c.12A>G, XM_017008238.2:c.12A>G, XM_017008238.1:c.12A>G, XM_017008240.2:c.12A>G, XM_017008240.1:c.12A>G, NM_001346007.2:c.-71A>G, NM_001346007.1:c.-71A>G, XM_047415721.1:c.-71A>G, XM_047415722.1:c.12A>G, XM_047415719.1:c.12A>G, XM_047415718.1:c.12A>G, XM_047415720.1:c.-71A>G

Select item 145634792514.

rs1456347925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185432164 (GRCh38)
4:186353318 (GRCh37)
Canonical SPDI:: NC_000004.12:185432163:G:A
Gene:: C4orf47 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.185432164G>A, NC_000004.11:g.186353318G>A, XM_011531989.3:c.283G>A, XM_011531989.2:c.283G>A, XM_011531989.1:c.283G>A, NM_001114357.3:c.283G>A, NM_001114357.2:c.283G>A, NM_001114357.1:c.283G>A, XM_017008239.2:c.283G>A, XM_017008239.1:c.283G>A, XM_017008238.2:c.283G>A, XM_017008238.1:c.283G>A, XM_017008240.2:c.283G>A, XM_017008240.1:c.283G>A, XM_047415722.1:c.283G>A, XM_047415719.1:c.283G>A, XM_047415718.1:c.283G>A, XP_011530291.1:p.Gly95Ser, NP_001107829.1:p.Gly95Ser, XP_016863728.1:p.Gly95Ser, XP_016863727.1:p.Gly95Ser, XP_016863729.1:p.Gly95Ser, XP_047271678.1:p.Gly95Ser, XP_047271675.1:p.Gly95Ser, XP_047271674.1:p.Gly95Ser

Select item 145587416015.

rs1455874160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185440710 (GRCh38)
4:186361864 (GRCh37)
Canonical SPDI:: NC_000004.12:185440709:T:C
Gene:: C4orf47 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000017/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185440710T>C, NC_000004.11:g.186361864T>C, XM_011531989.3:c.705T>C, XM_011531989.2:c.705T>C, XM_011531989.1:c.705T>C, NM_001114357.3:c.705T>C, NM_001114357.2:c.705T>C, NM_001114357.1:c.705T>C, XM_017008239.2:c.705T>C, XM_017008239.1:c.705T>C, XM_017008238.2:c.705T>C, XM_017008238.1:c.705T>C, XM_017008240.2:c.705T>C, XM_017008240.1:c.705T>C, NM_001346007.2:c.327T>C, NM_001346007.1:c.327T>C, XM_047415721.1:c.327T>C, XM_047415719.1:c.705T>C, XM_047415718.1:c.705T>C, XM_047415720.1:c.327T>C

Select item 145116053516.

rs1451160535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:185432048 (GRCh38)
4:186353202 (GRCh37)
Canonical SPDI:: NC_000004.12:185432047:A:T
Gene:: C4orf47 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.185432048A>T, NC_000004.11:g.186353202A>T, XM_011531989.3:c.167A>T, XM_011531989.2:c.167A>T, XM_011531989.1:c.167A>T, NM_001114357.3:c.167A>T, NM_001114357.2:c.167A>T, NM_001114357.1:c.167A>T, XM_017008239.2:c.167A>T, XM_017008239.1:c.167A>T, XM_017008238.2:c.167A>T, XM_017008238.1:c.167A>T, XM_017008240.2:c.167A>T, XM_017008240.1:c.167A>T, XM_047415722.1:c.167A>T, XM_047415719.1:c.167A>T, XM_047415718.1:c.167A>T, XP_011530291.1:p.Asp56Val, NP_001107829.1:p.Asp56Val, XP_016863728.1:p.Asp56Val, XP_016863727.1:p.Asp56Val, XP_016863729.1:p.Asp56Val, XP_047271678.1:p.Asp56Val, XP_047271675.1:p.Asp56Val, XP_047271674.1:p.Asp56Val

Select item 145096555917.

rs1450965559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185432069 (GRCh38)
4:186353223 (GRCh37)
Canonical SPDI:: NC_000004.12:185432068:A:G
Gene:: C4orf47 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185432069A>G, NC_000004.11:g.186353223A>G, XM_011531989.3:c.188A>G, XM_011531989.2:c.188A>G, XM_011531989.1:c.188A>G, NM_001114357.3:c.188A>G, NM_001114357.2:c.188A>G, NM_001114357.1:c.188A>G, XM_017008239.2:c.188A>G, XM_017008239.1:c.188A>G, XM_017008238.2:c.188A>G, XM_017008238.1:c.188A>G, XM_017008240.2:c.188A>G, XM_017008240.1:c.188A>G, XM_047415722.1:c.188A>G, XM_047415719.1:c.188A>G, XM_047415718.1:c.188A>G, XP_011530291.1:p.Asp63Gly, NP_001107829.1:p.Asp63Gly, XP_016863728.1:p.Asp63Gly, XP_016863727.1:p.Asp63Gly, XP_016863729.1:p.Asp63Gly, XP_047271678.1:p.Asp63Gly, XP_047271675.1:p.Asp63Gly, XP_047271674.1:p.Asp63Gly

Select item 144792942218.

rs1447929422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:185432068 (GRCh38)
4:186353222 (GRCh37)
Canonical SPDI:: NC_000004.12:185432067:G:C,NC_000004.12:185432067:G:T
Gene:: C4orf47 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185432068G>C, NC_000004.12:g.185432068G>T, NC_000004.11:g.186353222G>C, NC_000004.11:g.186353222G>T, XM_011531989.3:c.187G>C, XM_011531989.3:c.187G>T, XM_011531989.2:c.187G>C, XM_011531989.2:c.187G>T, XM_011531989.1:c.187G>C, XM_011531989.1:c.187G>T, NM_001114357.3:c.187G>C, NM_001114357.3:c.187G>T, NM_001114357.2:c.187G>C, NM_001114357.2:c.187G>T, NM_001114357.1:c.187G>C, NM_001114357.1:c.187G>T, XM_017008239.2:c.187G>C, XM_017008239.2:c.187G>T, XM_017008239.1:c.187G>C, XM_017008239.1:c.187G>T, XM_017008238.2:c.187G>C, XM_017008238.2:c.187G>T, XM_017008238.1:c.187G>C, XM_017008238.1:c.187G>T, XM_017008240.2:c.187G>C, XM_017008240.2:c.187G>T, XM_017008240.1:c.187G>C, XM_017008240.1:c.187G>T, XM_047415722.1:c.187G>C, XM_047415722.1:c.187G>T, XM_047415719.1:c.187G>C, XM_047415719.1:c.187G>T, XM_047415718.1:c.187G>C, XM_047415718.1:c.187G>T, XP_011530291.1:p.Asp63His, XP_011530291.1:p.Asp63Tyr, NP_001107829.1:p.Asp63His, NP_001107829.1:p.Asp63Tyr, XP_016863728.1:p.Asp63His, XP_016863728.1:p.Asp63Tyr, XP_016863727.1:p.Asp63His, XP_016863727.1:p.Asp63Tyr, XP_016863729.1:p.Asp63His, XP_016863729.1:p.Asp63Tyr, XP_047271678.1:p.Asp63His, XP_047271678.1:p.Asp63Tyr, XP_047271675.1:p.Asp63His, XP_047271675.1:p.Asp63Tyr, XP_047271674.1:p.Asp63His, XP_047271674.1:p.Asp63Tyr

Select item 144125591419.

rs1441255914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185445001 (GRCh38)
4:186366155 (GRCh37)
Canonical SPDI:: NC_000004.12:185445000:C:T
Gene:: CCDC110 (Varview), C4orf47 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185445001C>T, NC_000004.11:g.186366155C>T, XM_011531989.3:c.752C>T, XM_011531989.2:c.752C>T, XM_011531989.1:c.752C>T, NM_001114357.3:c.752C>T, NM_001114357.2:c.752C>T, NM_001114357.1:c.752C>T, XM_017008239.2:c.752C>T, XM_017008239.1:c.752C>T, XM_017008238.2:c.752C>T, XM_017008238.1:c.752C>T, XM_017008240.2:c.752C>T, XM_017008240.1:c.752C>T, NM_001346007.2:c.374C>T, NM_001346007.1:c.374C>T, XM_047415721.1:c.374C>T, XM_047415719.1:c.752C>T, XM_047415718.1:c.752C>T, XM_047415720.1:c.374C>T, XP_011530291.1:p.Pro251Leu, NP_001107829.1:p.Pro251Leu, XP_016863728.1:p.Pro251Leu, XP_016863727.1:p.Pro251Leu, XP_016863729.1:p.Pro251Leu, NP_001332936.1:p.Pro125Leu, XP_047271677.1:p.Pro125Leu, XP_047271675.1:p.Pro251Leu, XP_047271674.1:p.Pro251Leu, XP_047271676.1:p.Pro125Leu

Select item 143964707620.

rs1439647076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185436059 (GRCh38)
4:186357213 (GRCh37)
Canonical SPDI:: NC_000004.12:185436058:A:G
Gene:: C4orf47 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.185436059A>G, NC_000004.11:g.186357213A>G, XM_011531989.3:c.334A>G, XM_011531989.2:c.334A>G, XM_011531989.1:c.334A>G, NM_001114357.3:c.334A>G, NM_001114357.2:c.334A>G, NM_001114357.1:c.334A>G, XM_017008239.2:c.334A>G, XM_017008239.1:c.334A>G, XM_017008238.2:c.334A>G, XM_017008238.1:c.334A>G, XM_017008240.2:c.334A>G, XM_017008240.1:c.334A>G, NM_001346007.2:c.32A>G, NM_001346007.1:c.32A>G, XM_047415721.1:c.32A>G, XM_047415722.1:c.334A>G, XM_047415719.1:c.334A>G, XM_047415718.1:c.334A>G, XM_047415720.1:c.32A>G, XP_011530291.1:p.Ser112Gly, NP_001107829.1:p.Ser112Gly, XP_016863728.1:p.Ser112Gly, XP_016863727.1:p.Ser112Gly, XP_016863729.1:p.Ser112Gly, NP_001332936.1:p.Lys11Arg, XP_047271677.1:p.Lys11Arg, XP_047271678.1:p.Ser112Gly, XP_047271675.1:p.Ser112Gly, XP_047271674.1:p.Ser112Gly, XP_047271676.1:p.Lys11Arg

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