Canonical Allele Identifier: CA352167795

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1773247
• ClinVar RCV Id: RCV002396821
• dbSNP Id: rs1377852956
• gnomAD v2: 3-38794000-A-G
• gnomAD v4: 3-38752509-A-G
• MyVariant Identifiers: chr3:g.38794000A>G (hg19) ; chr3:g.38752509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752509A>G , CM000665.2:g.38752509A>G	GRCh38
NC_000003.11:g.38794000A>G , CM000665.1:g.38794000A>G	GRCh37
NC_000003.10:g.38769004A>G	NCBI36
NG_031891.2:g.46502T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1465T>C MANE Select	ENSP00000390600.2:p.Phe489Leu
ENST00000643924.1:c.1465T>C	ENSP00000495595.1:p.Phe489Leu
ENST00000655275.1:c.1492T>C	ENSP00000499510.1:p.Phe498Leu
ENST00000449082.2:c.1465T>C	ENSP00000390600.2:p.Phe489Leu
NM_001293306.2:c.1465T>C	NP_001280235.2:p.Phe489Leu
NM_001293307.2:c.1462-2325T>C	NP_001280236.2:n.1462-2325T>C
NM_006514.3:c.1465T>C	NP_006505.3:p.Phe489Leu
XM_005265371.2:c.1474T>C	XP_005265428.1:p.Phe492Leu
XM_011533993.1:c.1474T>C	XP_011532295.1:p.Phe492Leu
XM_011533994.1:c.1471-2325T>C	XP_011532296.1:n.1471-2325T>C
XM_005265371.3:c.1474T>C	XP_005265428.1:p.Phe492Leu
XM_011533993.2:c.1474T>C	XP_011532295.1:p.Phe492Leu
XM_011533994.2:c.1471-2325T>C	XP_011532296.1:n.1471-2325T>C
NM_006514.4:c.1465T>C MANE Select	NP_006505.4:p.Phe489Leu