Canonical Allele Identifier: CA2320343

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 240667
• ClinVar RCV Id: RCV000226123 ; RCV000430868 ; RCV002321881
• dbSNP Id: rs73062575
• ExAC: 3:38766760 G / T
• gnomAD v2: 3-38766760-G-T
• gnomAD v3: 3-38725269-G-T
• gnomAD v4: 3-38725269-G-T
• MyVariant Identifiers: chr3:g.38766760G>T (hg19) ; chr3:g.38725269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725269G>T , CM000665.2:g.38725269G>T	GRCh38
NC_000003.11:g.38766760G>T , CM000665.1:g.38766760G>T	GRCh37
NC_000003.10:g.38741764G>T	NCBI36
NG_031891.2:g.73742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3133C>A MANE Select	ENSP00000390600.2:p.Pro1045Thr
ENST00000643924.1:c.3130C>A	ENSP00000495595.1:p.Pro1044Thr
ENST00000655275.1:c.3157C>A	ENSP00000499510.1:p.Pro1053Thr
ENST00000449082.2:c.3133C>A	ENSP00000390600.2:p.Pro1045Thr
NM_001293306.2:c.3130C>A	NP_001280235.2:p.Pro1044Thr
NM_001293307.2:c.2839C>A	NP_001280236.2:p.Pro947Thr
NM_006514.3:c.3133C>A	NP_006505.3:p.Pro1045Thr
XM_005265371.2:c.3142C>A	XP_005265428.1:p.Pro1048Thr
XM_011533993.1:c.3139C>A	XP_011532295.1:p.Pro1047Thr
XM_011533994.1:c.2848C>A	XP_011532296.1:p.Pro950Thr
XM_005265371.3:c.3142C>A	XP_005265428.1:p.Pro1048Thr
XM_011533993.2:c.3139C>A	XP_011532295.1:p.Pro1047Thr
XM_011533994.2:c.2848C>A	XP_011532296.1:p.Pro950Thr
NM_006514.4:c.3133C>A MANE Select	NP_006505.4:p.Pro1045Thr