Canonical Allele Identifier: CA2320354

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2448834
• ClinVar RCV Id: RCV003186677
• dbSNP Id: rs764081453
• ExAC: 3:38766800 C / T
• gnomAD v2: 3-38766800-C-T
• gnomAD v4: 3-38725309-C-T
• MyVariant Identifiers: chr3:g.38766800C>T (hg19) ; chr3:g.38725309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725309C>T , CM000665.2:g.38725309C>T	GRCh38
NC_000003.11:g.38766800C>T , CM000665.1:g.38766800C>T	GRCh37
NC_000003.10:g.38741804C>T	NCBI36
NG_031891.2:g.73702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3093G>A MANE Select	ENSP00000390600.2:p.Glu1031=
ENST00000643924.1:c.3090G>A	ENSP00000495595.1:p.Glu1030=
ENST00000655275.1:c.3117G>A	ENSP00000499510.1:p.Glu1039=
ENST00000449082.2:c.3093G>A	ENSP00000390600.2:p.Glu1031=
NM_001293306.2:c.3090G>A	NP_001280235.2:p.Glu1030=
NM_001293307.2:c.2799G>A	NP_001280236.2:p.Glu933=
NM_006514.3:c.3093G>A	NP_006505.3:p.Glu1031=
XM_005265371.2:c.3102G>A	XP_005265428.1:p.Glu1034=
XM_011533993.1:c.3099G>A	XP_011532295.1:p.Glu1033=
XM_011533994.1:c.2808G>A	XP_011532296.1:p.Glu936=
XM_005265371.3:c.3102G>A	XP_005265428.1:p.Glu1034=
XM_011533993.2:c.3099G>A	XP_011532295.1:p.Glu1033=
XM_011533994.2:c.2808G>A	XP_011532296.1:p.Glu936=
NM_006514.4:c.3093G>A MANE Select	NP_006505.4:p.Glu1031=