Canonical Allele Identifier: CA352156727

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725251-C-A
• MyVariant Identifiers: chr3:g.38766742C>A (hg19) ; chr3:g.38725251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725251C>A , CM000665.2:g.38725251C>A	GRCh38
NC_000003.11:g.38766742C>A , CM000665.1:g.38766742C>A	GRCh37
NC_000003.10:g.38741746C>A	NCBI36
NG_031891.2:g.73760G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3151G>T MANE Select	ENSP00000390600.2:p.Gly1051Ter
ENST00000643924.1:c.3148G>T	ENSP00000495595.1:p.Gly1050Ter
ENST00000655275.1:c.3175G>T	ENSP00000499510.1:p.Gly1059Ter
ENST00000449082.2:c.3151G>T	ENSP00000390600.2:p.Gly1051Ter
NM_001293306.2:c.3148G>T	NP_001280235.2:p.Gly1050Ter
NM_001293307.2:c.2857G>T	NP_001280236.2:p.Gly953Ter
NM_006514.3:c.3151G>T	NP_006505.3:p.Gly1051Ter
XM_005265371.2:c.3160G>T	XP_005265428.1:p.Gly1054Ter
XM_011533993.1:c.3157G>T	XP_011532295.1:p.Gly1053Ter
XM_011533994.1:c.2866G>T	XP_011532296.1:p.Gly956Ter
XM_005265371.3:c.3160G>T	XP_005265428.1:p.Gly1054Ter
XM_011533993.2:c.3157G>T	XP_011532295.1:p.Gly1053Ter
XM_011533994.2:c.2866G>T	XP_011532296.1:p.Gly956Ter
NM_006514.4:c.3151G>T MANE Select	NP_006505.4:p.Gly1051Ter