Canonical Allele Identifier: CA433138248

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38723533-G-T
• MyVariant Identifiers: chr3:g.38765024G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723533G>T , CM000665.2:g.38723533G>T	GRCh38
NC_000003.11:g.38765024G>T , CM000665.1:g.38765024G>T	GRCh37
NC_000003.10:g.38740028G>T	NCBI36
NG_031891.2:g.75478C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3249C>A MANE Select	ENSP00000390600.2:p.Ser1083=
ENST00000643924.1:c.3246C>A	ENSP00000495595.1:p.Ser1082=
ENST00000655275.1:c.3273C>A	ENSP00000499510.1:p.Ser1091=
ENST00000449082.2:c.3249C>A	ENSP00000390600.2:p.Ser1083=
NM_001293306.2:c.3246C>A	NP_001280235.2:p.Ser1082=
NM_001293307.2:c.2955C>A	NP_001280236.2:p.Ser985=
NM_006514.3:c.3249C>A	NP_006505.3:p.Ser1083=
XM_005265371.2:c.3258C>A	XP_005265428.1:p.Ser1086=
XM_011533993.1:c.3255C>A	XP_011532295.1:p.Ser1085=
XM_011533994.1:c.2964C>A	XP_011532296.1:p.Ser988=
XM_005265371.3:c.3258C>A	XP_005265428.1:p.Ser1086=
XM_011533993.2:c.3255C>A	XP_011532295.1:p.Ser1085=
XM_011533994.2:c.2964C>A	XP_011532296.1:p.Ser988=
NM_006514.4:c.3249C>A MANE Select	NP_006505.4:p.Ser1083=