Canonical Allele Identifier: CA352155412

Gene: SCN10A

Linked Data

• dbSNP Id: rs1575917442
• gnomAD v4: 3-38698368-T-C
• MyVariant Identifiers: chr3:g.38739859T>C (hg19) ; chr3:g.38698368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698368T>C , CM000665.2:g.38698368T>C	GRCh38
NC_000003.11:g.38739859T>C , CM000665.1:g.38739859T>C	GRCh37
NC_000003.10:g.38714863T>C	NCBI36
NG_031891.2:g.100643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4852A>G MANE Select	ENSP00000390600.2:p.Met1618Val
ENST00000643924.1:c.4849A>G	ENSP00000495595.1:p.Met1617Val
ENST00000655275.1:c.4876A>G	ENSP00000499510.1:p.Met1626Val
ENST00000449082.2:c.4852A>G	ENSP00000390600.2:p.Met1618Val
NM_001293306.2:c.4849A>G	NP_001280235.2:p.Met1617Val
NM_001293307.2:c.4558A>G	NP_001280236.2:p.Met1520Val
NM_006514.3:c.4852A>G	NP_006505.3:p.Met1618Val
XM_005265371.2:c.4861A>G	XP_005265428.1:p.Met1621Val
XM_011533993.1:c.4858A>G	XP_011532295.1:p.Met1620Val
XM_011533994.1:c.4567A>G	XP_011532296.1:p.Met1523Val
XM_005265371.3:c.4861A>G	XP_005265428.1:p.Met1621Val
XM_011533993.2:c.4858A>G	XP_011532295.1:p.Met1620Val
XM_011533994.2:c.4567A>G	XP_011532296.1:p.Met1523Val
NM_006514.4:c.4852A>G MANE Select	NP_006505.4:p.Met1618Val