Canonical Allele Identifier: CA352156617

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725196-G-A
• MyVariant Identifiers: chr3:g.38766687G>A (hg19) ; chr3:g.38725196G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725196G>A , CM000665.2:g.38725196G>A	GRCh38
NC_000003.11:g.38766687G>A , CM000665.1:g.38766687G>A	GRCh37
NC_000003.10:g.38741691G>A	NCBI36
NG_031891.2:g.73815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3206C>T MANE Select	ENSP00000390600.2:p.Ser1069Phe
ENST00000643924.1:c.3203C>T	ENSP00000495595.1:p.Ser1068Phe
ENST00000655275.1:c.3230C>T	ENSP00000499510.1:p.Ser1077Phe
ENST00000449082.2:c.3206C>T	ENSP00000390600.2:p.Ser1069Phe
NM_001293306.2:c.3203C>T	NP_001280235.2:p.Ser1068Phe
NM_001293307.2:c.2912C>T	NP_001280236.2:p.Ser971Phe
NM_006514.3:c.3206C>T	NP_006505.3:p.Ser1069Phe
XM_005265371.2:c.3215C>T	XP_005265428.1:p.Ser1072Phe
XM_011533993.1:c.3212C>T	XP_011532295.1:p.Ser1071Phe
XM_011533994.1:c.2921C>T	XP_011532296.1:p.Ser974Phe
XM_005265371.3:c.3215C>T	XP_005265428.1:p.Ser1072Phe
XM_011533993.2:c.3212C>T	XP_011532295.1:p.Ser1071Phe
XM_011533994.2:c.2921C>T	XP_011532296.1:p.Ser974Phe
NM_006514.4:c.3206C>T MANE Select	NP_006505.4:p.Ser1069Phe