Canonical Allele Identifier: CA2320330

Gene: SCN10A

Linked Data

• dbSNP Id: rs765419083
• ExAC: 3:38766712 G / C
• gnomAD v2: 3-38766712-G-C
• gnomAD v4: 3-38725221-G-C
• MyVariant Identifiers: chr3:g.38766712G>C (hg19) ; chr3:g.38725221G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725221G>C , CM000665.2:g.38725221G>C	GRCh38
NC_000003.11:g.38766712G>C , CM000665.1:g.38766712G>C	GRCh37
NC_000003.10:g.38741716G>C	NCBI36
NG_031891.2:g.73790C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3181C>G MANE Select	ENSP00000390600.2:p.Leu1061Val
ENST00000643924.1:c.3178C>G	ENSP00000495595.1:p.Leu1060Val
ENST00000655275.1:c.3205C>G	ENSP00000499510.1:p.Leu1069Val
ENST00000449082.2:c.3181C>G	ENSP00000390600.2:p.Leu1061Val
NM_001293306.2:c.3178C>G	NP_001280235.2:p.Leu1060Val
NM_001293307.2:c.2887C>G	NP_001280236.2:p.Leu963Val
NM_006514.3:c.3181C>G	NP_006505.3:p.Leu1061Val
XM_005265371.2:c.3190C>G	XP_005265428.1:p.Leu1064Val
XM_011533993.1:c.3187C>G	XP_011532295.1:p.Leu1063Val
XM_011533994.1:c.2896C>G	XP_011532296.1:p.Leu966Val
XM_005265371.3:c.3190C>G	XP_005265428.1:p.Leu1064Val
XM_011533993.2:c.3187C>G	XP_011532295.1:p.Leu1063Val
XM_011533994.2:c.2896C>G	XP_011532296.1:p.Leu966Val
NM_006514.4:c.3181C>G MANE Select	NP_006505.4:p.Leu1061Val