Canonical Allele Identifier: CA352156675

Gene: SCN10A

Linked Data

• dbSNP Id: rs2063440308
• MyVariant Identifiers: chr3:g.38766714G>A (hg19) ; chr3:g.38725223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725223G>A , CM000665.2:g.38725223G>A	GRCh38
NC_000003.11:g.38766714G>A , CM000665.1:g.38766714G>A	GRCh37
NC_000003.10:g.38741718G>A	NCBI36
NG_031891.2:g.73788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3179C>T MANE Select	ENSP00000390600.2:p.Ser1060Phe
ENST00000643924.1:c.3176C>T	ENSP00000495595.1:p.Ser1059Phe
ENST00000655275.1:c.3203C>T	ENSP00000499510.1:p.Ser1068Phe
ENST00000449082.2:c.3179C>T	ENSP00000390600.2:p.Ser1060Phe
NM_001293306.2:c.3176C>T	NP_001280235.2:p.Ser1059Phe
NM_001293307.2:c.2885C>T	NP_001280236.2:p.Ser962Phe
NM_006514.3:c.3179C>T	NP_006505.3:p.Ser1060Phe
XM_005265371.2:c.3188C>T	XP_005265428.1:p.Ser1063Phe
XM_011533993.1:c.3185C>T	XP_011532295.1:p.Ser1062Phe
XM_011533994.1:c.2894C>T	XP_011532296.1:p.Ser965Phe
XM_005265371.3:c.3188C>T	XP_005265428.1:p.Ser1063Phe
XM_011533993.2:c.3185C>T	XP_011532295.1:p.Ser1062Phe
XM_011533994.2:c.2894C>T	XP_011532296.1:p.Ser965Phe
NM_006514.4:c.3179C>T MANE Select	NP_006505.4:p.Ser1060Phe