Canonical Allele Identifier: CA16611281

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 407752
• ClinVar RCV Id: RCV000472428 ; RCV002411452
• dbSNP Id: rs1060501716
• gnomAD v2: 3-38793735-A-T
• gnomAD v3: 3-38752244-A-T
• gnomAD v4: 3-38752244-A-T
• MyVariant Identifiers: chr3:g.38793735A>T (hg19) ; chr3:g.38752244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752244A>T , CM000665.2:g.38752244A>T	GRCh38
NC_000003.11:g.38793735A>T , CM000665.1:g.38793735A>T	GRCh37
NC_000003.10:g.38768739A>T	NCBI36
NG_031891.2:g.46767T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1730T>A MANE Select	ENSP00000390600.2:p.Leu577His
ENST00000643924.1:c.1730T>A	ENSP00000495595.1:p.Leu577His
ENST00000655275.1:c.1757T>A	ENSP00000499510.1:p.Leu586His
ENST00000449082.2:c.1730T>A	ENSP00000390600.2:p.Leu577His
NM_001293306.2:c.1730T>A	NP_001280235.2:p.Leu577His
NM_001293307.2:c.1462-2060T>A	NP_001280236.2:n.1462-2060T>A
NM_006514.3:c.1730T>A	NP_006505.3:p.Leu577His
XM_005265371.2:c.1739T>A	XP_005265428.1:p.Leu580His
XM_011533993.1:c.1739T>A	XP_011532295.1:p.Leu580His
XM_011533994.1:c.1471-2060T>A	XP_011532296.1:n.1471-2060T>A
XM_005265371.3:c.1739T>A	XP_005265428.1:p.Leu580His
XM_011533993.2:c.1739T>A	XP_011532295.1:p.Leu580His
XM_011533994.2:c.1471-2060T>A	XP_011532296.1:n.1471-2060T>A
NM_006514.4:c.1730T>A MANE Select	NP_006505.4:p.Leu577His