Canonical Allele Identifier: CA352156715

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725244-G-A
• COSMIC: COSM230002
• MyVariant Identifiers: chr3:g.38766735G>A (hg19) ; chr3:g.38725244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725244G>A , CM000665.2:g.38725244G>A	GRCh38
NC_000003.11:g.38766735G>A , CM000665.1:g.38766735G>A	GRCh37
NC_000003.10:g.38741739G>A	NCBI36
NG_031891.2:g.73767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3158C>T MANE Select	ENSP00000390600.2:p.Ser1053Phe
ENST00000643924.1:c.3155C>T	ENSP00000495595.1:p.Ser1052Phe
ENST00000655275.1:c.3182C>T	ENSP00000499510.1:p.Ser1061Phe
ENST00000449082.2:c.3158C>T	ENSP00000390600.2:p.Ser1053Phe
NM_001293306.2:c.3155C>T	NP_001280235.2:p.Ser1052Phe
NM_001293307.2:c.2864C>T	NP_001280236.2:p.Ser955Phe
NM_006514.3:c.3158C>T	NP_006505.3:p.Ser1053Phe
XM_005265371.2:c.3167C>T	XP_005265428.1:p.Ser1056Phe
XM_011533993.1:c.3164C>T	XP_011532295.1:p.Ser1055Phe
XM_011533994.1:c.2873C>T	XP_011532296.1:p.Ser958Phe
XM_005265371.3:c.3167C>T	XP_005265428.1:p.Ser1056Phe
XM_011533993.2:c.3164C>T	XP_011532295.1:p.Ser1055Phe
XM_011533994.2:c.2873C>T	XP_011532296.1:p.Ser958Phe
NM_006514.4:c.3158C>T MANE Select	NP_006505.4:p.Ser1053Phe