Canonical Allele Identifier: CA352156425

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38723529-C-A
• MyVariant Identifiers: chr3:g.38765020C>A (hg19) ; chr3:g.38723529C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723529C>A , CM000665.2:g.38723529C>A	GRCh38
NC_000003.11:g.38765020C>A , CM000665.1:g.38765020C>A	GRCh37
NC_000003.10:g.38740024C>A	NCBI36
NG_031891.2:g.75482G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3253G>T MANE Select	ENSP00000390600.2:p.Glu1085Ter
ENST00000643924.1:c.3250G>T	ENSP00000495595.1:p.Glu1084Ter
ENST00000655275.1:c.3277G>T	ENSP00000499510.1:p.Glu1093Ter
ENST00000449082.2:c.3253G>T	ENSP00000390600.2:p.Glu1085Ter
NM_001293306.2:c.3250G>T	NP_001280235.2:p.Glu1084Ter
NM_001293307.2:c.2959G>T	NP_001280236.2:p.Glu987Ter
NM_006514.3:c.3253G>T	NP_006505.3:p.Glu1085Ter
XM_005265371.2:c.3262G>T	XP_005265428.1:p.Glu1088Ter
XM_011533993.1:c.3259G>T	XP_011532295.1:p.Glu1087Ter
XM_011533994.1:c.2968G>T	XP_011532296.1:p.Glu990Ter
XM_005265371.3:c.3262G>T	XP_005265428.1:p.Glu1088Ter
XM_011533993.2:c.3259G>T	XP_011532295.1:p.Glu1087Ter
XM_011533994.2:c.2968G>T	XP_011532296.1:p.Glu990Ter
NM_006514.4:c.3253G>T MANE Select	NP_006505.4:p.Glu1085Ter