Canonical Allele Identifier: CA352155395

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38698365-A-G
• MyVariant Identifiers: chr3:g.38739856A>G (hg19) ; chr3:g.38698365A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698365A>G , CM000665.2:g.38698365A>G	GRCh38
NC_000003.11:g.38739856A>G , CM000665.1:g.38739856A>G	GRCh37
NC_000003.10:g.38714860A>G	NCBI36
NG_031891.2:g.100646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4855T>C MANE Select	ENSP00000390600.2:p.Phe1619Leu
ENST00000643924.1:c.4852T>C	ENSP00000495595.1:p.Phe1618Leu
ENST00000655275.1:c.4879T>C	ENSP00000499510.1:p.Phe1627Leu
ENST00000449082.2:c.4855T>C	ENSP00000390600.2:p.Phe1619Leu
NM_001293306.2:c.4852T>C	NP_001280235.2:p.Phe1618Leu
NM_001293307.2:c.4561T>C	NP_001280236.2:p.Phe1521Leu
NM_006514.3:c.4855T>C	NP_006505.3:p.Phe1619Leu
XM_005265371.2:c.4864T>C	XP_005265428.1:p.Phe1622Leu
XM_011533993.1:c.4861T>C	XP_011532295.1:p.Phe1621Leu
XM_011533994.1:c.4570T>C	XP_011532296.1:p.Phe1524Leu
XM_005265371.3:c.4864T>C	XP_005265428.1:p.Phe1622Leu
XM_011533993.2:c.4861T>C	XP_011532295.1:p.Phe1621Leu
XM_011533994.2:c.4570T>C	XP_011532296.1:p.Phe1524Leu
NM_006514.4:c.4855T>C MANE Select	NP_006505.4:p.Phe1619Leu