Canonical Allele Identifier: CA2320814

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 809464
• ClinVar RCV Id: RCV000998050 ; RCV001040445 ; RCV002400172
• dbSNP Id: rs200714519
• ExAC: 3:38793931 G / A
• gnomAD v2: 3-38793931-G-A
• gnomAD v3: 3-38752440-G-A
• gnomAD v4: 3-38752440-G-A
• COSMIC: COSM3593606
• MyVariant Identifiers: chr3:g.38793931G>A (hg19) ; chr3:g.38752440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752440G>A , CM000665.2:g.38752440G>A	GRCh38
NC_000003.11:g.38793931G>A , CM000665.1:g.38793931G>A	GRCh37
NC_000003.10:g.38768935G>A	NCBI36
NG_031891.2:g.46571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1534C>T MANE Select	ENSP00000390600.2:p.Arg512Ter
ENST00000643924.1:c.1534C>T	ENSP00000495595.1:p.Arg512Ter
ENST00000655275.1:c.1561C>T	ENSP00000499510.1:p.Arg521Ter
ENST00000449082.2:c.1534C>T	ENSP00000390600.2:p.Arg512Ter
NM_001293306.2:c.1534C>T	NP_001280235.2:p.Arg512Ter
NM_001293307.2:c.1462-2256C>T	NP_001280236.2:n.1462-2256C>T
NM_006514.3:c.1534C>T	NP_006505.3:p.Arg512Ter
XM_005265371.2:c.1543C>T	XP_005265428.1:p.Arg515Ter
XM_011533993.1:c.1543C>T	XP_011532295.1:p.Arg515Ter
XM_011533994.1:c.1471-2256C>T	XP_011532296.1:n.1471-2256C>T
XM_005265371.3:c.1543C>T	XP_005265428.1:p.Arg515Ter
XM_011533993.2:c.1543C>T	XP_011532295.1:p.Arg515Ter
XM_011533994.2:c.1471-2256C>T	XP_011532296.1:n.1471-2256C>T
NM_006514.4:c.1534C>T MANE Select	NP_006505.4:p.Arg512Ter