Canonical Allele Identifier: CA2319796

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 418471
• ClinVar RCV Id: RCV001704586 ; RCV002341126 ; RCV002496851
• dbSNP Id: rs375940680
• ExAC: 3:38739862 C / A
• gnomAD v2: 3-38739862-C-A
• gnomAD v3: 3-38698371-C-A
• gnomAD v4: 3-38698371-C-A
• MyVariant Identifiers: chr3:g.38739862C>A (hg19) ; chr3:g.38698371C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698371C>A , CM000665.2:g.38698371C>A	GRCh38
NC_000003.11:g.38739862C>A , CM000665.1:g.38739862C>A	GRCh37
NC_000003.10:g.38714866C>A	NCBI36
NG_031891.2:g.100640G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.4849G>T MANE Select	ENSP00000390600.2:p.Val1617Phe
ENST00000643924.1:c.4846G>T	ENSP00000495595.1:p.Val1616Phe
ENST00000655275.1:c.4873G>T	ENSP00000499510.1:p.Val1625Phe
ENST00000449082.2:c.4849G>T	ENSP00000390600.2:p.Val1617Phe
NM_001293306.2:c.4846G>T	NP_001280235.2:p.Val1616Phe
NM_001293307.2:c.4555G>T	NP_001280236.2:p.Val1519Phe
NM_006514.3:c.4849G>T	NP_006505.3:p.Val1617Phe
XM_005265371.2:c.4858G>T	XP_005265428.1:p.Val1620Phe
XM_011533993.1:c.4855G>T	XP_011532295.1:p.Val1619Phe
XM_011533994.1:c.4564G>T	XP_011532296.1:p.Val1522Phe
XM_005265371.3:c.4858G>T	XP_005265428.1:p.Val1620Phe
XM_011533993.2:c.4855G>T	XP_011532295.1:p.Val1619Phe
XM_011533994.2:c.4564G>T	XP_011532296.1:p.Val1522Phe
NM_006514.4:c.4849G>T MANE Select	NP_006505.4:p.Val1617Phe