Canonical Allele Identifier: CA433334829

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2839494
• ClinVar RCV Id: RCV003655897
• MyVariant Identifiers: chr3:g.38793983A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752492A>G , CM000665.2:g.38752492A>G	GRCh38
NC_000003.11:g.38793983A>G , CM000665.1:g.38793983A>G	GRCh37
NC_000003.10:g.38768987A>G	NCBI36
NG_031891.2:g.46519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1482T>C MANE Select	ENSP00000390600.2:p.Ser494=
ENST00000643924.1:c.1482T>C	ENSP00000495595.1:p.Ser494=
ENST00000655275.1:c.1509T>C	ENSP00000499510.1:p.Ser503=
ENST00000449082.2:c.1482T>C	ENSP00000390600.2:p.Ser494=
NM_001293306.2:c.1482T>C	NP_001280235.2:p.Ser494=
NM_001293307.2:c.1462-2308T>C	NP_001280236.2:n.1462-2308T>C
NM_006514.3:c.1482T>C	NP_006505.3:p.Ser494=
XM_005265371.2:c.1491T>C	XP_005265428.1:p.Ser497=
XM_011533993.1:c.1491T>C	XP_011532295.1:p.Ser497=
XM_011533994.1:c.1471-2308T>C	XP_011532296.1:n.1471-2308T>C
XM_005265371.3:c.1491T>C	XP_005265428.1:p.Ser497=
XM_011533993.2:c.1491T>C	XP_011532295.1:p.Ser497=
XM_011533994.2:c.1471-2308T>C	XP_011532296.1:n.1471-2308T>C
NM_006514.4:c.1482T>C MANE Select	NP_006505.4:p.Ser494=