Canonical Allele Identifier: CA433138555

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2448844
• ClinVar RCV Id: RCV003186685 ; RCV003539472
• dbSNP Id: rs773394234
• gnomAD v4: 3-38725288-C-T
• MyVariant Identifiers: chr3:g.38766779C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725288C>T , CM000665.2:g.38725288C>T	GRCh38
NC_000003.11:g.38766779C>T , CM000665.1:g.38766779C>T	GRCh37
NC_000003.10:g.38741783C>T	NCBI36
NG_031891.2:g.73723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3114G>A MANE Select	ENSP00000390600.2:p.Arg1038=
ENST00000643924.1:c.3111G>A	ENSP00000495595.1:p.Arg1037=
ENST00000655275.1:c.3138G>A	ENSP00000499510.1:p.Arg1046=
ENST00000449082.2:c.3114G>A	ENSP00000390600.2:p.Arg1038=
NM_001293306.2:c.3111G>A	NP_001280235.2:p.Arg1037=
NM_001293307.2:c.2820G>A	NP_001280236.2:p.Arg940=
NM_006514.3:c.3114G>A	NP_006505.3:p.Arg1038=
XM_005265371.2:c.3123G>A	XP_005265428.1:p.Arg1041=
XM_011533993.1:c.3120G>A	XP_011532295.1:p.Arg1040=
XM_011533994.1:c.2829G>A	XP_011532296.1:p.Arg943=
XM_005265371.3:c.3123G>A	XP_005265428.1:p.Arg1041=
XM_011533993.2:c.3120G>A	XP_011532295.1:p.Arg1040=
XM_011533994.2:c.2829G>A	XP_011532296.1:p.Arg943=
NM_006514.4:c.3114G>A MANE Select	NP_006505.4:p.Arg1038=