Canonical Allele Identifier: CA345720

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 143201
• ClinVar RCV Id: RCV000132737 ; RCV000254971 ; RCV000797599 ; RCV002305449
• dbSNP Id: rs527236150
• gnomAD v2: 17-62024442-C-T
• gnomAD v4: 17-63947082-C-T
• COSMIC: COSM5732313
• MyVariant Identifiers: chr17:g.62024442C>T (hg19) ; chr17:g.63947082C>T (hg38)
• PubMed: PMID:20301512

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947082C>T , CM000679.2:g.63947082C>T	GRCh38
NC_000017.10:g.62024442C>T , CM000679.1:g.62024442C>T	GRCh37
NC_000017.9:g.59378174C>T	NCBI36
NG_011699.1:g.30837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3404G>A MANE Select	ENSP00000396320.1:p.Arg1135His
ENST00000578147.5:c.3404G>A	ENSP00000463963.1:p.Arg1135His
NM_000334.4:c.3404G>A MANE Select	NP_000325.4:p.Arg1135His
XM_005257566.3:c.3404G>A	XP_005257623.1:p.Arg1135His