SNP Links for Protein (Select 574287056) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 423

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Select item 14895941061.

rs1489594106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:131555539 (GRCh38)
3:131274383 (GRCh37)
Canonical SPDI:: NC_000003.12:131555538:G:T
Gene:: CPNE4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.131555539G>T, NC_000003.11:g.131274383G>T, NM_130808.3:c.1074C>A, NM_130808.2:c.1074C>A, NM_130808.1:c.1074C>A, XM_011512408.3:c.735C>A, XM_011512408.2:c.735C>A, XM_011512408.1:c.735C>A, XM_017005694.3:c.1140C>A, XM_017005694.2:c.1140C>A, XM_017005694.1:c.1074C>A, NM_153429.2:c.1128C>A, NM_153429.1:c.1128C>A, NM_001289112.2:c.1128C>A, NM_001289112.1:c.1128C>A, XM_024453339.2:c.1074C>A, XM_024453339.1:c.1074C>A, XM_047447422.1:c.1140C>A, NM_001388327.1:c.735C>A, NM_001388326.1:c.735C>A, XM_047447423.1:c.654C>A, NP_570720.1:p.Phe358Leu, XP_011510710.1:p.Phe245Leu, XP_016861183.2:p.Phe380Leu, NP_702907.1:p.Phe376Leu, NP_001276041.1:p.Phe376Leu, XP_024309107.1:p.Phe358Leu, XP_047303378.1:p.Phe380Leu, NP_001375256.1:p.Phe245Leu, NP_001375255.1:p.Phe245Leu, XP_047303379.1:p.Phe218Leu

Select item 14828719932.

rs1482871993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:132037565 (GRCh38)
3:131756409 (GRCh37)
Canonical SPDI:: NC_000003.12:132037564:A:G
Gene:: CPNE4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_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_000003.12:g.132037565A>G, NC_000003.11:g.131756409A>G, NM_153429.2:c.45T>C, NM_153429.1:c.45T>C, NM_001289112.2:c.45T>C, NM_001289112.1:c.45T>C, NM_001388326.1:c.-168T>C

Select item 14814778273.

rs1481477827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:131542575 (GRCh38)
3:131261419 (GRCh37)
Canonical SPDI:: NC_000003.12:131542574:G:A
Gene:: CPNE4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.131542575G>A, NC_000003.11:g.131261419G>A, NM_130808.3:c.1521C>T, NM_130808.2:c.1521C>T, NM_130808.1:c.1521C>T, XM_011512408.3:c.1182C>T, XM_011512408.2:c.1182C>T, XM_011512408.1:c.1182C>T, NM_153429.2:c.1575C>T, NM_153429.1:c.1575C>T, NM_001289112.2:c.1575C>T, NM_001289112.1:c.1575C>T, XM_024453339.2:c.1521C>T, XM_024453339.1:c.1521C>T, XM_047447422.1:c.1587C>T, NM_001388327.1:c.1182C>T, NM_001388326.1:c.1182C>T, XM_047447423.1:c.1101C>T

Select item 14796580284.

rs1479658028 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:131905428 (GRCh38)
3:131624272 (GRCh37)
Canonical SPDI:: NC_000003.12:131905427:T:A
Gene:: CPNE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.131905428T>A, NC_000003.11:g.131624272T>A, NM_130808.3:c.16A>T, NM_130808.2:c.16A>T, NM_130808.1:c.16A>T, XM_017005694.3:c.82A>T, XM_017005694.2:c.82A>T, XM_017005694.1:c.16A>T, NM_153429.2:c.70A>T, NM_153429.1:c.70A>T, NM_001289112.2:c.70A>T, NM_001289112.1:c.70A>T, XM_024453339.2:c.16A>T, XM_024453339.1:c.16A>T, XM_047447422.1:c.82A>T, NP_570720.1:p.Asn6Tyr, XP_016861183.2:p.Asn28Tyr, NP_702907.1:p.Asn24Tyr, NP_001276041.1:p.Asn24Tyr, XP_024309107.1:p.Asn6Tyr, XP_047303378.1:p.Asn28Tyr

Select item 14784384305.

rs1478438430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:131555525 (GRCh38)
3:131274369 (GRCh37)
Canonical SPDI:: NC_000003.12:131555524:A:G
Gene:: CPNE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.131555525A>G, NC_000003.11:g.131274369A>G, NM_130808.3:c.1088T>C, NM_130808.2:c.1088T>C, NM_130808.1:c.1088T>C, XM_011512408.3:c.749T>C, XM_011512408.2:c.749T>C, XM_011512408.1:c.749T>C, XM_017005694.3:c.1154T>C, XM_017005694.2:c.1154T>C, XM_017005694.1:c.1088T>C, NM_153429.2:c.1142T>C, NM_153429.1:c.1142T>C, NM_001289112.2:c.1142T>C, NM_001289112.1:c.1142T>C, XM_024453339.2:c.1088T>C, XM_024453339.1:c.1088T>C, XM_047447422.1:c.1154T>C, NM_001388327.1:c.749T>C, NM_001388326.1:c.749T>C, XM_047447423.1:c.668T>C, NP_570720.1:p.Phe363Ser, XP_011510710.1:p.Phe250Ser, XP_016861183.2:p.Phe385Ser, NP_702907.1:p.Phe381Ser, NP_001276041.1:p.Phe381Ser, XP_024309107.1:p.Phe363Ser, XP_047303378.1:p.Phe385Ser, NP_001375256.1:p.Phe250Ser, NP_001375255.1:p.Phe250Ser, XP_047303379.1:p.Phe223Ser

Select item 14761336636.

rs1476133663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:131669678 (GRCh38)
3:131388522 (GRCh37)
Canonical SPDI:: NC_000003.12:131669677:T:C
Gene:: CPNE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000003.12:g.131669678T>C, NC_000003.11:g.131388522T>C, NM_130808.3:c.678A>G, NM_130808.2:c.678A>G, NM_130808.1:c.678A>G, XM_011512408.3:c.339A>G, XM_011512408.2:c.339A>G, XM_011512408.1:c.339A>G, XM_017005694.3:c.744A>G, XM_017005694.2:c.744A>G, XM_017005694.1:c.678A>G, NM_153429.2:c.732A>G, NM_153429.1:c.732A>G, NM_001289112.2:c.732A>G, NM_001289112.1:c.732A>G, XM_024453339.2:c.678A>G, XM_024453339.1:c.678A>G, XM_047447422.1:c.744A>G, NM_001388327.1:c.339A>G, NM_001388326.1:c.339A>G, XM_047447423.1:c.28A>G, XP_047303379.1:p.Lys10Glu

Select item 14743811837.

rs1474381183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:131587548 (GRCh38)
3:131306392 (GRCh37)
Canonical SPDI:: NC_000003.12:131587547:T:A
Gene:: CPNE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.131587548T>A, NC_000003.11:g.131306392T>A, NM_130808.3:c.716A>T, NM_130808.2:c.716A>T, NM_130808.1:c.716A>T, XM_011512408.3:c.377A>T, XM_011512408.2:c.377A>T, XM_011512408.1:c.377A>T, XM_017005694.3:c.782A>T, XM_017005694.2:c.782A>T, XM_017005694.1:c.716A>T, NM_153429.2:c.770A>T, NM_153429.1:c.770A>T, NM_001289112.2:c.770A>T, NM_001289112.1:c.770A>T, XM_024453339.2:c.716A>T, XM_024453339.1:c.716A>T, XM_047447422.1:c.782A>T, NM_001388327.1:c.377A>T, NM_001388326.1:c.377A>T, XM_047447423.1:c.296A>T, NP_570720.1:p.His239Leu, XP_011510710.1:p.His126Leu, XP_016861183.2:p.His261Leu, NP_702907.1:p.His257Leu, NP_001276041.1:p.His257Leu, XP_024309107.1:p.His239Leu, XP_047303378.1:p.His261Leu, NP_001375256.1:p.His126Leu, NP_001375255.1:p.His126Leu, XP_047303379.1:p.His99Leu

Select item 14738020328.

rs1473802032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:131905309 (GRCh38)
3:131624153 (GRCh37)
Canonical SPDI:: NC_000003.12:131905308:G:A,NC_000003.12:131905308:G:T
Gene:: CPNE4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.131905309G>A, NC_000003.12:g.131905309G>T, NC_000003.11:g.131624153G>A, NC_000003.11:g.131624153G>T, NM_130808.3:c.135C>T, NM_130808.3:c.135C>A, NM_130808.2:c.135C>T, NM_130808.2:c.135C>A, NM_130808.1:c.135C>T, NM_130808.1:c.135C>A, XM_017005694.3:c.201C>T, XM_017005694.3:c.201C>A, XM_017005694.2:c.201C>T, XM_017005694.2:c.201C>A, XM_017005694.1:c.135C>T, XM_017005694.1:c.135C>A, NM_153429.2:c.189C>T, NM_153429.2:c.189C>A, NM_153429.1:c.189C>T, NM_153429.1:c.189C>A, NM_001289112.2:c.189C>T, NM_001289112.2:c.189C>A, NM_001289112.1:c.189C>T, NM_001289112.1:c.189C>A, XM_024453339.2:c.135C>T, XM_024453339.2:c.135C>A, XM_024453339.1:c.135C>T, XM_024453339.1:c.135C>A, XM_047447422.1:c.201C>T, XM_047447422.1:c.201C>A, NP_570720.1:p.Asp45Glu, XP_016861183.2:p.Asp67Glu, NP_702907.1:p.Asp63Glu, NP_001276041.1:p.Asp63Glu, XP_024309107.1:p.Asp45Glu, XP_047303378.1:p.Asp67Glu

Select item 14708855059.

rs1470885505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:131535306 (GRCh38)
3:131254150 (GRCh37)
Canonical SPDI:: NC_000003.12:131535305:C:G,NC_000003.12:131535305:C:T
Gene:: CPNE4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.131535306C>G, NC_000003.12:g.131535306C>T, NC_000003.11:g.131254150C>G, NC_000003.11:g.131254150C>T, NM_130808.3:c.1563G>C, NM_130808.3:c.1563G>A, NM_130808.2:c.1563G>C, NM_130808.2:c.1563G>A, NM_130808.1:c.1563G>C, NM_130808.1:c.1563G>A, XM_011512408.3:c.1224G>C, XM_011512408.3:c.1224G>A, XM_011512408.2:c.1224G>C, XM_011512408.2:c.1224G>A, XM_011512408.1:c.1224G>C, XM_011512408.1:c.1224G>A, NM_153429.2:c.1617G>C, NM_153429.2:c.1617G>A, NM_153429.1:c.1617G>C, NM_153429.1:c.1617G>A, NM_001289112.2:c.1617G>C, NM_001289112.2:c.1617G>A, NM_001289112.1:c.1617G>C, NM_001289112.1:c.1617G>A, XM_024453339.2:c.1563G>C, XM_024453339.2:c.1563G>A, XM_024453339.1:c.1563G>C, XM_024453339.1:c.1563G>A, XM_047447422.1:c.1629G>C, XM_047447422.1:c.1629G>A, NM_001388327.1:c.1224G>C, NM_001388327.1:c.1224G>A, NM_001388326.1:c.1224G>C, NM_001388326.1:c.1224G>A, XM_047447423.1:c.1143G>C, XM_047447423.1:c.1143G>A, NP_570720.1:p.Lys521Asn, XP_011510710.1:p.Lys408Asn, NP_702907.1:p.Lys539Asn, NP_001276041.1:p.Lys539Asn, XP_024309107.1:p.Lys521Asn, XP_047303378.1:p.Lys543Asn, NP_001375256.1:p.Lys408Asn, NP_001375255.1:p.Lys408Asn, XP_047303379.1:p.Lys381Asn

Select item 147079265810.

rs1470792658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:131696573 (GRCh38)
3:131415417 (GRCh37)
Canonical SPDI:: NC_000003.12:131696572:A:G
Gene:: CPNE4 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000003.12:g.131696573A>G, NC_000003.11:g.131415417A>G, NM_130808.3:c.476T>C, NM_130808.2:c.476T>C, NM_130808.1:c.476T>C, XM_011512408.3:c.137T>C, XM_011512408.2:c.137T>C, XM_011512408.1:c.137T>C, XM_017005694.3:c.542T>C, XM_017005694.2:c.542T>C, XM_017005694.1:c.476T>C, NM_153429.2:c.530T>C, NM_153429.1:c.530T>C, NM_001289112.2:c.530T>C, NM_001289112.1:c.530T>C, XM_024453339.2:c.476T>C, XM_024453339.1:c.476T>C, XM_047447422.1:c.542T>C, NM_001388327.1:c.137T>C, NM_001388326.1:c.137T>C, NP_570720.1:p.Leu159Pro, XP_011510710.1:p.Leu46Pro, XP_016861183.2:p.Leu181Pro, NP_702907.1:p.Leu177Pro, NP_001276041.1:p.Leu177Pro, XP_024309107.1:p.Leu159Pro, XP_047303378.1:p.Leu181Pro, NP_001375256.1:p.Leu46Pro, NP_001375255.1:p.Leu46Pro

Select item 146716102411.

rs1467161024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:131723543 (GRCh38)
3:131442387 (GRCh37)
Canonical SPDI:: NC_000003.12:131723542:A:G
Gene:: CPNE4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.131723543A>G, NC_000003.11:g.131442387A>G, NM_130808.3:c.263T>C, NM_130808.2:c.263T>C, NM_130808.1:c.263T>C, XM_011512408.3:c.-77T>C, XM_011512408.2:c.-77T>C, XM_011512408.1:c.-77T>C, XM_017005694.3:c.329T>C, XM_017005694.2:c.329T>C, XM_017005694.1:c.263T>C, NM_153429.2:c.317T>C, NM_153429.1:c.317T>C, NM_001289112.2:c.317T>C, NM_001289112.1:c.317T>C, XM_024453339.2:c.263T>C, XM_024453339.1:c.263T>C, XM_047447422.1:c.329T>C, NM_001388327.1:c.-77T>C, NM_001388326.1:c.-77T>C, NP_570720.1:p.Val88Ala, XP_016861183.2:p.Val110Ala, NP_702907.1:p.Val106Ala, NP_001276041.1:p.Val106Ala, XP_024309107.1:p.Val88Ala, XP_047303378.1:p.Val110Ala

Select item 146352194012.

rs1463521940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:131723523 (GRCh38)
3:131442367 (GRCh37)
Canonical SPDI:: NC_000003.12:131723522:C:G
Gene:: CPNE4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.131723523C>G, NC_000003.11:g.131442367C>G, NM_130808.3:c.283G>C, NM_130808.2:c.283G>C, NM_130808.1:c.283G>C, XM_011512408.3:c.-57G>C, XM_011512408.2:c.-57G>C, XM_011512408.1:c.-57G>C, XM_017005694.3:c.349G>C, XM_017005694.2:c.349G>C, XM_017005694.1:c.283G>C, NM_153429.2:c.337G>C, NM_153429.1:c.337G>C, NM_001289112.2:c.337G>C, NM_001289112.1:c.337G>C, XM_024453339.2:c.283G>C, XM_024453339.1:c.283G>C, XM_047447422.1:c.349G>C, NM_001388327.1:c.-57G>C, NM_001388326.1:c.-57G>C, NP_570720.1:p.Val95Leu, XP_016861183.2:p.Val117Leu, NP_702907.1:p.Val113Leu, NP_001276041.1:p.Val113Leu, XP_024309107.1:p.Val95Leu, XP_047303378.1:p.Val117Leu

Select item 146324464013.

rs1463244640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:131723565 (GRCh38)
3:131442409 (GRCh37)
Canonical SPDI:: NC_000003.12:131723564:C:T
Gene:: CPNE4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.131723565C>T, NC_000003.11:g.131442409C>T, NM_130808.3:c.241G>A, NM_130808.2:c.241G>A, NM_130808.1:c.241G>A, XM_011512408.3:c.-99G>A, XM_011512408.2:c.-99G>A, XM_011512408.1:c.-99G>A, XM_017005694.3:c.307G>A, XM_017005694.2:c.307G>A, XM_017005694.1:c.241G>A, NM_153429.2:c.295G>A, NM_153429.1:c.295G>A, NM_001289112.2:c.295G>A, NM_001289112.1:c.295G>A, XM_024453339.2:c.241G>A, XM_024453339.1:c.241G>A, XM_047447422.1:c.307G>A, NM_001388327.1:c.-99G>A, NM_001388326.1:c.-99G>A, NP_570720.1:p.Val81Met, XP_016861183.2:p.Val103Met, NP_702907.1:p.Val99Met, NP_001276041.1:p.Val99Met, XP_024309107.1:p.Val81Met, XP_047303378.1:p.Val103Met

Select item 146101123214.

rs1461011232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:131575099 (GRCh38)
3:131293943 (GRCh37)
Canonical SPDI:: NC_000003.12:131575098:A:C
Gene:: CPNE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.131575099A>C, NC_000003.11:g.131293943A>C, NM_130808.3:c.899T>G, NM_130808.2:c.899T>G, NM_130808.1:c.899T>G, XM_011512408.3:c.560T>G, XM_011512408.2:c.560T>G, XM_011512408.1:c.560T>G, XM_017005694.3:c.965T>G, XM_017005694.2:c.965T>G, XM_017005694.1:c.899T>G, NM_153429.2:c.953T>G, NM_153429.1:c.953T>G, NM_001289112.2:c.953T>G, NM_001289112.1:c.953T>G, XM_024453339.2:c.899T>G, XM_024453339.1:c.899T>G, XM_047447422.1:c.965T>G, NM_001388327.1:c.560T>G, NM_001388326.1:c.560T>G, XM_047447423.1:c.479T>G, NP_570720.1:p.Ile300Ser, XP_011510710.1:p.Ile187Ser, XP_016861183.2:p.Ile322Ser, NP_702907.1:p.Ile318Ser, NP_001276041.1:p.Ile318Ser, XP_024309107.1:p.Ile300Ser, XP_047303378.1:p.Ile322Ser, NP_001375256.1:p.Ile187Ser, NP_001375255.1:p.Ile187Ser, XP_047303379.1:p.Ile160Ser

Select item 145717921115.

rs1457179211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:131905341 (GRCh38)
3:131624185 (GRCh37)
Canonical SPDI:: NC_000003.12:131905340:T:C,NC_000003.12:131905340:T:G
Gene:: CPNE4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.131905341T>C, NC_000003.12:g.131905341T>G, NC_000003.11:g.131624185T>C, NC_000003.11:g.131624185T>G, NM_130808.3:c.103A>G, NM_130808.3:c.103A>C, NM_130808.2:c.103A>G, NM_130808.2:c.103A>C, NM_130808.1:c.103A>G, NM_130808.1:c.103A>C, XM_017005694.3:c.169A>G, XM_017005694.3:c.169A>C, XM_017005694.2:c.169A>G, XM_017005694.2:c.169A>C, XM_017005694.1:c.103A>G, XM_017005694.1:c.103A>C, NM_153429.2:c.157A>G, NM_153429.2:c.157A>C, NM_153429.1:c.157A>G, NM_153429.1:c.157A>C, NM_001289112.2:c.157A>G, NM_001289112.2:c.157A>C, NM_001289112.1:c.157A>G, NM_001289112.1:c.157A>C, XM_024453339.2:c.103A>G, XM_024453339.2:c.103A>C, XM_024453339.1:c.103A>G, XM_024453339.1:c.103A>C, XM_047447422.1:c.169A>G, XM_047447422.1:c.169A>C, NP_570720.1:p.Ile35Val, NP_570720.1:p.Ile35Leu, XP_016861183.2:p.Ile57Val, XP_016861183.2:p.Ile57Leu, NP_702907.1:p.Ile53Val, NP_702907.1:p.Ile53Leu, NP_001276041.1:p.Ile53Val, NP_001276041.1:p.Ile53Leu, XP_024309107.1:p.Ile35Val, XP_024309107.1:p.Ile35Leu, XP_047303378.1:p.Ile57Val, XP_047303378.1:p.Ile57Leu

Select item 145054469216.

rs1450544692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:131699977 (GRCh38)
3:131418821 (GRCh37)
Canonical SPDI:: NC_000003.12:131699976:C:A
Gene:: CPNE4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0004/2 (ALFA)
A=0.0004/2 (Estonian)
HGVS:: NC_000003.12:g.131699977C>A, NC_000003.11:g.131418821C>A, NM_130808.3:c.364G>T, NM_130808.2:c.364G>T, NM_130808.1:c.364G>T, XM_011512408.3:c.25G>T, XM_011512408.2:c.25G>T, XM_011512408.1:c.25G>T, XM_017005694.3:c.430G>T, XM_017005694.2:c.430G>T, XM_017005694.1:c.364G>T, NM_153429.2:c.418G>T, NM_153429.1:c.418G>T, NM_001289112.2:c.418G>T, NM_001289112.1:c.418G>T, XM_024453339.2:c.364G>T, XM_024453339.1:c.364G>T, XM_047447422.1:c.430G>T, NM_001388327.1:c.25G>T, NM_001388326.1:c.25G>T, NP_570720.1:p.Val122Phe, XP_011510710.1:p.Val9Phe, XP_016861183.2:p.Val144Phe, NP_702907.1:p.Val140Phe, NP_001276041.1:p.Val140Phe, XP_024309107.1:p.Val122Phe, XP_047303378.1:p.Val144Phe, NP_001375256.1:p.Val9Phe, NP_001375255.1:p.Val9Phe

Select item 144595710517.

rs1445957105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:131905439 (GRCh38)
3:131624283 (GRCh37)
Canonical SPDI:: NC_000003.12:131905438:T:C
Gene:: CPNE4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.131905439T>C, NC_000003.11:g.131624283T>C, NM_130808.3:c.5A>G, NM_130808.2:c.5A>G, NM_130808.1:c.5A>G, XM_017005694.3:c.71A>G, XM_017005694.2:c.71A>G, XM_017005694.1:c.5A>G, NM_153429.2:c.59A>G, NM_153429.1:c.59A>G, NM_001289112.2:c.59A>G, NM_001289112.1:c.59A>G, XM_024453339.2:c.5A>G, XM_024453339.1:c.5A>G, XM_047447422.1:c.71A>G, NP_570720.1:p.Lys2Arg, XP_016861183.2:p.Lys24Arg, NP_702907.1:p.Lys20Arg, NP_001276041.1:p.Lys20Arg, XP_024309107.1:p.Lys2Arg, XP_047303378.1:p.Lys24Arg

Select item 144488988718.

rs1444889887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:131685948 (GRCh38)
3:131404792 (GRCh37)
Canonical SPDI:: NC_000003.12:131685947:C:G
Gene:: CPNE4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_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)
HGVS:: NC_000003.12:g.131685948C>G, NC_000003.11:g.131404792C>G, NM_130808.3:c.518G>C, NM_130808.2:c.518G>C, NM_130808.1:c.518G>C, XM_011512408.3:c.179G>C, XM_011512408.2:c.179G>C, XM_011512408.1:c.179G>C, XM_017005694.3:c.584G>C, XM_017005694.2:c.584G>C, XM_017005694.1:c.518G>C, NM_153429.2:c.572G>C, NM_153429.1:c.572G>C, NM_001289112.2:c.572G>C, NM_001289112.1:c.572G>C, XM_024453339.2:c.518G>C, XM_024453339.1:c.518G>C, XM_047447422.1:c.584G>C, NM_001388327.1:c.179G>C, NM_001388326.1:c.179G>C, XM_047447423.1:c.-133G>C, NP_570720.1:p.Ser173Thr, XP_011510710.1:p.Ser60Thr, XP_016861183.2:p.Ser195Thr, NP_702907.1:p.Ser191Thr, NP_001276041.1:p.Ser191Thr, XP_024309107.1:p.Ser173Thr, XP_047303378.1:p.Ser195Thr, NP_001375256.1:p.Ser60Thr, NP_001375255.1:p.Ser60Thr

Select item 144103703919.

rs1441037039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:131723507 (GRCh38)
3:131442351 (GRCh37)
Canonical SPDI:: NC_000003.12:131723506:C:G
Gene:: CPNE4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.131723507C>G, NC_000003.11:g.131442351C>G, NM_130808.3:c.299G>C, NM_130808.2:c.299G>C, NM_130808.1:c.299G>C, XM_011512408.3:c.-41G>C, XM_011512408.2:c.-41G>C, XM_011512408.1:c.-41G>C, XM_017005694.3:c.365G>C, XM_017005694.2:c.365G>C, XM_017005694.1:c.299G>C, NM_153429.2:c.353G>C, NM_153429.1:c.353G>C, NM_001289112.2:c.353G>C, NM_001289112.1:c.353G>C, XM_024453339.2:c.299G>C, XM_024453339.1:c.299G>C, XM_047447422.1:c.365G>C, NM_001388327.1:c.-41G>C, NM_001388326.1:c.-41G>C, NP_570720.1:p.Ser100Thr, XP_016861183.2:p.Ser122Thr, NP_702907.1:p.Ser118Thr, NP_001276041.1:p.Ser118Thr, XP_024309107.1:p.Ser100Thr, XP_047303378.1:p.Ser122Thr

Select item 143963017020.

rs1439630170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:131549951 (GRCh38)
3:131268795 (GRCh37)
Canonical SPDI:: NC_000003.12:131549950:G:A
Gene:: CPNE4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.131549951G>A, NC_000003.11:g.131268795G>A, NM_130808.3:c.1298C>T, NM_130808.2:c.1298C>T, NM_130808.1:c.1298C>T, XM_011512408.3:c.959C>T, XM_011512408.2:c.959C>T, XM_011512408.1:c.959C>T, XM_017005694.3:c.1364C>T, XM_017005694.2:c.1364C>T, XM_017005694.1:c.1298C>T, NM_153429.2:c.1352C>T, NM_153429.1:c.1352C>T, NM_001289112.2:c.1352C>T, NM_001289112.1:c.1352C>T, XM_024453339.2:c.1298C>T, XM_024453339.1:c.1298C>T, XM_047447422.1:c.1364C>T, NM_001388327.1:c.959C>T, NM_001388326.1:c.959C>T, XM_047447423.1:c.878C>T, NP_570720.1:p.Ala433Val, XP_011510710.1:p.Ala320Val, XP_016861183.2:p.Ala455Val, NP_702907.1:p.Ala451Val, NP_001276041.1:p.Ala451Val, XP_024309107.1:p.Ala433Val, XP_047303378.1:p.Ala455Val, NP_001375256.1:p.Ala320Val, NP_001375255.1:p.Ala320Val, XP_047303379.1:p.Ala293Val

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