SNP Links for Protein (Select 662033891) - SNP

Links from Protein

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Select item 14909812561.

rs1490981256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:6570960 (GRCh38)
12:6680126 (GRCh37)
Canonical SPDI:: NC_000012.12:6570959:C:A,NC_000012.12:6570959:C:T
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6570960C>A, NC_000012.12:g.6570960C>T, NC_000012.11:g.6680126C>A, NC_000012.11:g.6680126C>T, NG_052823.1:g.41480G>T, NG_052823.1:g.41480G>A, NM_001273.5:c.5630G>T, NM_001273.5:c.5630G>A, NM_001273.4:c.5630G>T, NM_001273.4:c.5630G>A, NM_001273.3:c.5630G>T, NM_001273.3:c.5630G>A, NM_001273.2:c.5630G>T, NM_001273.2:c.5630G>A, NM_001363606.2:c.5600G>T, NM_001363606.2:c.5600G>A, NM_001363606.1:c.5600G>T, NM_001363606.1:c.5600G>A, NM_001297553.2:c.5609G>T, NM_001297553.2:c.5609G>A, NM_001297553.1:c.5609G>T, NM_001297553.1:c.5609G>A, NP_001264.2:p.Arg1877Leu, NP_001264.2:p.Arg1877Gln, NP_001350535.1:p.Arg1867Leu, NP_001350535.1:p.Arg1867Gln, NP_001284482.1:p.Arg1870Leu, NP_001284482.1:p.Arg1870Gln

Select item 14904690282.

rs1490469028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6581696 (GRCh38)
12:6690862 (GRCh37)
Canonical SPDI:: NC_000012.12:6581695:G:C
Gene:: CHD4 (Varview), SCARNA11 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.6581696G>C, NC_000012.11:g.6690862G>C, NG_052823.1:g.30744C>G, NM_001273.5:c.4634C>G, NM_001273.4:c.4634C>G, NM_001273.3:c.4634C>G, NM_001273.2:c.4634C>G, NM_001363606.2:c.4595C>G, NM_001363606.1:c.4595C>G, NM_001297553.2:c.4613C>G, NM_001297553.1:c.4613C>G, NP_001264.2:p.Thr1545Ser, NP_001350535.1:p.Thr1532Ser, NP_001284482.1:p.Thr1538Ser

Select item 14900714633.

rs1490071463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:6578107 (GRCh38)
12:6687273 (GRCh37)
Canonical SPDI:: NC_000012.12:6578106:C:A,NC_000012.12:6578106:C:T
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6578107C>A, NC_000012.12:g.6578107C>T, NC_000012.11:g.6687273C>A, NC_000012.11:g.6687273C>T, NG_052823.1:g.34333G>T, NG_052823.1:g.34333G>A, NM_001273.5:c.5150G>T, NM_001273.5:c.5150G>A, NM_001273.4:c.5150G>T, NM_001273.4:c.5150G>A, NM_001273.3:c.5150G>T, NM_001273.3:c.5150G>A, NM_001273.2:c.5150G>T, NM_001273.2:c.5150G>A, NM_001363606.2:c.5117G>T, NM_001363606.2:c.5117G>A, NM_001363606.1:c.5117G>T, NM_001363606.1:c.5117G>A, NM_001297553.2:c.5129G>T, NM_001297553.2:c.5129G>A, NM_001297553.1:c.5129G>T, NM_001297553.1:c.5129G>A, NP_001264.2:p.Arg1717Leu, NP_001264.2:p.Arg1717Gln, NP_001350535.1:p.Arg1706Leu, NP_001350535.1:p.Arg1706Gln, NP_001284482.1:p.Arg1710Leu, NP_001284482.1:p.Arg1710Gln

Select item 14895273904.

rs1489527390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6594471 (GRCh38)
12:6703637 (GRCh37)
Canonical SPDI:: NC_000012.12:6594470:G:A
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6594471G>A, NC_000012.11:g.6703637G>A, NG_052823.1:g.17969C>T, NM_001273.5:c.2301C>T, NM_001273.4:c.2301C>T, NM_001273.3:c.2301C>T, NM_001273.2:c.2301C>T, NM_001363606.2:c.2262C>T, NM_001363606.1:c.2262C>T, NM_001297553.2:c.2280C>T, NM_001297553.1:c.2280C>T

Select item 14890506425.

rs1489050642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:6592709 (GRCh38)
12:6701875 (GRCh37)
Canonical SPDI:: NC_000012.12:6592708:G:T
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.6592709G>T, NC_000012.11:g.6701875G>T, NG_052823.1:g.19731C>A, NM_001273.5:c.2761C>A, NM_001273.4:c.2761C>A, NM_001273.3:c.2761C>A, NM_001273.2:c.2761C>A, NM_001363606.2:c.2722C>A, NM_001363606.1:c.2722C>A, NM_001297553.2:c.2740C>A, NM_001297553.1:c.2740C>A, NP_001264.2:p.Pro921Thr, NP_001350535.1:p.Pro908Thr, NP_001284482.1:p.Pro914Thr

Select item 14887074416.

rs1488707441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6593149 (GRCh38)
12:6702315 (GRCh37)
Canonical SPDI:: NC_000012.12:6593148:A:G
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6593149A>G, NC_000012.11:g.6702315A>G, NG_052823.1:g.19291T>C, NM_001273.5:c.2594T>C, NM_001273.4:c.2594T>C, NM_001273.3:c.2594T>C, NM_001273.2:c.2594T>C, NM_001363606.2:c.2555T>C, NM_001363606.1:c.2555T>C, NM_001297553.2:c.2573T>C, NM_001297553.1:c.2573T>C, NP_001264.2:p.Ile865Thr, NP_001350535.1:p.Ile852Thr, NP_001284482.1:p.Ile858Thr

Select item 14882241897.

rs1488224189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6592715 (GRCh38)
12:6701881 (GRCh37)
Canonical SPDI:: NC_000012.12:6592714:G:A
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.6592715G>A, NC_000012.11:g.6701881G>A, NG_052823.1:g.19725C>T, NM_001273.5:c.2755C>T, NM_001273.4:c.2755C>T, NM_001273.3:c.2755C>T, NM_001273.2:c.2755C>T, NM_001363606.2:c.2716C>T, NM_001363606.1:c.2716C>T, NM_001297553.2:c.2734C>T, NM_001297553.1:c.2734C>T, NP_001264.2:p.Leu919Phe, NP_001350535.1:p.Leu906Phe, NP_001284482.1:p.Leu912Phe

Select item 14880961778.

rs1488096177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6596032 (GRCh38)
12:6705198 (GRCh37)
Canonical SPDI:: NC_000012.12:6596031:C:G
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6596032C>G, NC_000012.11:g.6705198C>G, NG_052823.1:g.16408G>C, NM_001273.5:c.1998G>C, NM_001273.4:c.1998G>C, NM_001273.3:c.1998G>C, NM_001273.2:c.1998G>C, NM_001363606.2:c.1959G>C, NM_001363606.1:c.1959G>C, NM_001297553.2:c.1977G>C, NM_001297553.1:c.1977G>C

Select item 14880281539.

rs1488028153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6595340 (GRCh38)
12:6704506 (GRCh37)
Canonical SPDI:: NC_000012.12:6595339:T:C
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6595340T>C, NC_000012.11:g.6704506T>C, NG_052823.1:g.17100A>G, NM_001273.5:c.2115A>G, NM_001273.4:c.2115A>G, NM_001273.3:c.2115A>G, NM_001273.2:c.2115A>G, NM_001363606.2:c.2076A>G, NM_001363606.1:c.2076A>G, NM_001297553.2:c.2094A>G, NM_001297553.1:c.2094A>G

Select item 148769561210.

rs1487695612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6606316 (GRCh38)
12:6715482 (GRCh37)
Canonical SPDI:: NC_000012.12:6606315:T:C
Gene:: CHD4 (Varview), LOC124902867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.6606316T>C, NC_000012.11:g.6715482T>C, NG_052823.1:g.6124A>G, NM_001273.5:c.58A>G, NM_001273.4:c.58A>G, NM_001273.3:c.58A>G, NM_001273.2:c.58A>G, NM_001363606.2:c.58A>G, NM_001363606.1:c.58A>G, NM_001297553.2:c.58A>G, NM_001297553.1:c.58A>G, NP_001264.2:p.Met20Val, NP_001350535.1:p.Met20Val, NP_001284482.1:p.Met20Val

Select item 148704449911.

rs1487044499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:6598425 (GRCh38)
12:6707591 (GRCh37)
Canonical SPDI:: NC_000012.12:6598424:A:T
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.6598425A>T, NC_000012.11:g.6707591A>T, NG_052823.1:g.14015T>A, NM_001273.5:c.1483T>A, NM_001273.4:c.1483T>A, NM_001273.3:c.1483T>A, NM_001273.2:c.1483T>A, NM_001363606.2:c.1444T>A, NM_001363606.1:c.1444T>A, NM_001297553.2:c.1462T>A, NM_001297553.1:c.1462T>A, NP_001264.2:p.Cys495Ser, NP_001350535.1:p.Cys482Ser, NP_001284482.1:p.Cys488Ser

Select item 148612012112.

rs1486120121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:6606280 (GRCh38)
12:6715446 (GRCh37)
Canonical SPDI:: NC_000012.12:6606279:G:T
Gene:: CHD4 (Varview), LOC124902867 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.6606280G>T, NC_000012.11:g.6715446G>T, NG_052823.1:g.6160C>A, NM_001273.5:c.94C>A, NM_001273.4:c.94C>A, NM_001273.3:c.94C>A, NM_001273.2:c.94C>A, NM_001363606.2:c.94C>A, NM_001363606.1:c.94C>A, NM_001297553.2:c.94C>A, NM_001297553.1:c.94C>A, NP_001264.2:p.His32Asn, NP_001350535.1:p.His32Asn, NP_001284482.1:p.His32Asn

Select item 148608756413.

rs1486087564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6591753 (GRCh38)
12:6700919 (GRCh37)
Canonical SPDI:: NC_000012.12:6591752:G:A
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.6591753G>A, NC_000012.11:g.6700919G>A, NG_052823.1:g.20687C>T, NM_001273.5:c.3163C>T, NM_001273.4:c.3163C>T, NM_001273.3:c.3163C>T, NM_001273.2:c.3163C>T, NM_001363606.2:c.3124C>T, NM_001363606.1:c.3124C>T, NM_001297553.2:c.3142C>T, NM_001297553.1:c.3142C>T

Select item 148597678714.

rs1485976787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6587764 (GRCh38)
12:6696930 (GRCh37)
Canonical SPDI:: NC_000012.12:6587763:A:G
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6587764A>G, NC_000012.11:g.6696930A>G, NG_052823.1:g.24676T>C, NM_001273.5:c.3651T>C, NM_001273.4:c.3651T>C, NM_001273.3:c.3651T>C, NM_001273.2:c.3651T>C, NM_001363606.2:c.3612T>C, NM_001363606.1:c.3612T>C, NM_001297553.2:c.3630T>C, NM_001297553.1:c.3630T>C

Select item 148572180015.

rs1485721800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6581102 (GRCh38)
12:6690268 (GRCh37)
Canonical SPDI:: NC_000012.12:6581101:T:C
Gene:: CHD4 (Varview), SCARNA11 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.6581102T>C, NC_000012.11:g.6690268T>C, NG_052823.1:g.31338A>G, NM_001273.5:c.4851A>G, NM_001273.4:c.4851A>G, NM_001273.3:c.4851A>G, NM_001273.2:c.4851A>G, NM_001363606.2:c.4812A>G, NM_001363606.1:c.4812A>G, NM_001297553.2:c.4830A>G, NM_001297553.1:c.4830A>G

Select item 148543465916.

rs1485434659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:6600627 (GRCh38)
12:6709793 (GRCh37)
Canonical SPDI:: NC_000012.12:6600626:C:A
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.6600627C>A, NC_000012.11:g.6709793C>A, NG_052823.1:g.11813G>T, NM_001273.5:c.970G>T, NM_001273.4:c.970G>T, NM_001273.3:c.970G>T, NM_001273.2:c.970G>T, NM_001363606.2:c.970G>T, NM_001363606.1:c.970G>T, NM_001297553.2:c.949G>T, NM_001297553.1:c.949G>T, NP_001264.2:p.Ala324Ser, NP_001350535.1:p.Ala324Ser, NP_001284482.1:p.Ala317Ser

Select item 148436131317.

rs1484361313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6593142 (GRCh38)
12:6702308 (GRCh37)
Canonical SPDI:: NC_000012.12:6593141:C:T
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000012.12:g.6593142C>T, NC_000012.11:g.6702308C>T, NG_052823.1:g.19298G>A, NM_001273.5:c.2601G>A, NM_001273.4:c.2601G>A, NM_001273.3:c.2601G>A, NM_001273.2:c.2601G>A, NM_001363606.2:c.2562G>A, NM_001363606.1:c.2562G>A, NM_001297553.2:c.2580G>A, NM_001297553.1:c.2580G>A, NP_001264.2:p.Trp867Ter, NP_001350535.1:p.Trp854Ter, NP_001284482.1:p.Trp860Ter

Select item 148396076518.

rs1483960765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:6601755 (GRCh38)
12:6710921 (GRCh37)
Canonical SPDI:: NC_000012.12:6601754:T:A
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6601755T>A, NC_000012.11:g.6710921T>A, NG_052823.1:g.10685A>T, NM_001273.5:c.450A>T, NM_001273.4:c.450A>T, NM_001273.3:c.450A>T, NM_001273.2:c.450A>T, NM_001363606.2:c.450A>T, NM_001363606.1:c.450A>T, NM_001297553.2:c.429A>T, NM_001297553.1:c.429A>T

Select item 148382783419.

rs1483827834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6578065 (GRCh38)
12:6687231 (GRCh37)
Canonical SPDI:: NC_000012.12:6578064:C:T
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000012.12:g.6578065C>T, NC_000012.11:g.6687231C>T, NG_052823.1:g.34375G>A, NM_001273.5:c.5192G>A, NM_001273.4:c.5192G>A, NM_001273.3:c.5192G>A, NM_001273.2:c.5192G>A, NM_001363606.2:c.5159G>A, NM_001363606.1:c.5159G>A, NM_001297553.2:c.5171G>A, NM_001297553.1:c.5171G>A, NP_001264.2:p.Arg1731Gln, NP_001350535.1:p.Arg1720Gln, NP_001284482.1:p.Arg1724Gln

Select item 148373468520.

rs1483734685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6592747 (GRCh38)
12:6701913 (GRCh37)
Canonical SPDI:: NC_000012.12:6592746:T:C
Gene:: CHD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00003/1 (ALFA)
HGVS:: NC_000012.12:g.6592747T>C, NC_000012.11:g.6701913T>C, NG_052823.1:g.19693A>G, NM_001273.5:c.2723A>G, NM_001273.4:c.2723A>G, NM_001273.3:c.2723A>G, NM_001273.2:c.2723A>G, NM_001363606.2:c.2684A>G, NM_001363606.1:c.2684A>G, NM_001297553.2:c.2702A>G, NM_001297553.1:c.2702A>G, NP_001264.2:p.Asn908Ser, NP_001350535.1:p.Asn895Ser, NP_001284482.1:p.Asn901Ser

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