Canonical Allele Identifier: CA2319687

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 390781
• ClinVar RCV Id: RCV001700179 ; RCV002348241
• dbSNP Id: rs188413410
• ExAC: 3:38739353 G / A
• gnomAD v2: 3-38739353-G-A
• gnomAD v3: 3-38697862-G-A
• gnomAD v4: 3-38697862-G-A
• COSMIC: COSM3593526
• MyVariant Identifiers: chr3:g.38739353G>A (hg19) ; chr3:g.38697862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38697862G>A , CM000665.2:g.38697862G>A	GRCh38
NC_000003.11:g.38739353G>A , CM000665.1:g.38739353G>A	GRCh37
NC_000003.10:g.38714357G>A	NCBI36
NG_031891.2:g.101149C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.5358C>T MANE Select	ENSP00000390600.2:p.Ile1786=
ENST00000643924.1:c.5355C>T	ENSP00000495595.1:p.Ile1785=
ENST00000655275.1:c.5382C>T	ENSP00000499510.1:p.Ile1794=
ENST00000449082.2:c.5358C>T	ENSP00000390600.2:p.Ile1786=
NM_001293306.2:c.5355C>T	NP_001280235.2:p.Ile1785=
NM_001293307.2:c.5064C>T	NP_001280236.2:p.Ile1688=
NM_006514.3:c.5358C>T	NP_006505.3:p.Ile1786=
XM_005265371.2:c.5367C>T	XP_005265428.1:p.Ile1789=
XM_011533993.1:c.5364C>T	XP_011532295.1:p.Ile1788=
XM_011533994.1:c.5073C>T	XP_011532296.1:p.Ile1691=
XM_005265371.3:c.5367C>T	XP_005265428.1:p.Ile1789=
XM_011533993.2:c.5364C>T	XP_011532295.1:p.Ile1788=
XM_011533994.2:c.5073C>T	XP_011532296.1:p.Ile1691=
NM_006514.4:c.5358C>T MANE Select	NP_006505.4:p.Ile1786=