Canonical Allele Identifier: CA145439

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 89015
• ClinVar RCV Id: RCV000074498 ; RCV001318345 ; RCV003362684
• dbSNP Id: rs142173735
• ExAC: 3:38753831 C / T
• gnomAD v2: 3-38753831-C-T
• gnomAD v3: 3-38712340-C-T
• gnomAD v4: 3-38712340-C-T
• COSMIC: COSM1044327
• MyVariant Identifiers: chr3:g.38753831C>T (hg19) ; chr3:g.38712340C>T (hg38)
• PubMed: PMID:23115331

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38712340C>T , CM000665.2:g.38712340C>T	GRCh38
NC_000003.11:g.38753831C>T , CM000665.1:g.38753831C>T	GRCh37
NC_000003.10:g.38728835C>T	NCBI36
NG_031891.2:g.86671G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.3910G>A MANE Select	ENSP00000390600.2:p.Ala1304Thr
ENST00000643924.1:c.3907G>A	ENSP00000495595.1:p.Ala1303Thr
ENST00000655275.1:c.3934G>A	ENSP00000499510.1:p.Ala1312Thr
ENST00000449082.2:c.3910G>A	ENSP00000390600.2:p.Ala1304Thr
NM_001293306.2:c.3907G>A	NP_001280235.2:p.Ala1303Thr
NM_001293307.2:c.3616G>A	NP_001280236.2:p.Ala1206Thr
NM_006514.3:c.3910G>A	NP_006505.3:p.Ala1304Thr
XM_005265371.2:c.3919G>A	XP_005265428.1:p.Ala1307Thr
XM_011533993.1:c.3916G>A	XP_011532295.1:p.Ala1306Thr
XM_011533994.1:c.3625G>A	XP_011532296.1:p.Ala1209Thr
XM_005265371.3:c.3919G>A	XP_005265428.1:p.Ala1307Thr
XM_011533993.2:c.3916G>A	XP_011532295.1:p.Ala1306Thr
XM_011533994.2:c.3625G>A	XP_011532296.1:p.Ala1209Thr
NM_006514.4:c.3910G>A MANE Select	NP_006505.4:p.Ala1304Thr