Canonical Allele Identifier: CA352167782

Gene: SCN10A

Linked Data

• dbSNP Id: rs1333189383
• gnomAD v2: 3-38793997-G-T
• gnomAD v4: 3-38752506-G-T
• MyVariant Identifiers: chr3:g.38793997G>T (hg19) ; chr3:g.38752506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752506G>T , CM000665.2:g.38752506G>T	GRCh38
NC_000003.11:g.38793997G>T , CM000665.1:g.38793997G>T	GRCh37
NC_000003.10:g.38769001G>T	NCBI36
NG_031891.2:g.46505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1468C>A MANE Select	ENSP00000390600.2:p.Leu490Ile
ENST00000643924.1:c.1468C>A	ENSP00000495595.1:p.Leu490Ile
ENST00000655275.1:c.1495C>A	ENSP00000499510.1:p.Leu499Ile
ENST00000449082.2:c.1468C>A	ENSP00000390600.2:p.Leu490Ile
NM_001293306.2:c.1468C>A	NP_001280235.2:p.Leu490Ile
NM_001293307.2:c.1462-2322C>A	NP_001280236.2:n.1462-2322C>A
NM_006514.3:c.1468C>A	NP_006505.3:p.Leu490Ile
XM_005265371.2:c.1477C>A	XP_005265428.1:p.Leu493Ile
XM_011533993.1:c.1477C>A	XP_011532295.1:p.Leu493Ile
XM_011533994.1:c.1471-2322C>A	XP_011532296.1:n.1471-2322C>A
XM_005265371.3:c.1477C>A	XP_005265428.1:p.Leu493Ile
XM_011533993.2:c.1477C>A	XP_011532295.1:p.Leu493Ile
XM_011533994.2:c.1471-2322C>A	XP_011532296.1:n.1471-2322C>A
NM_006514.4:c.1468C>A MANE Select	NP_006505.4:p.Leu490Ile