Canonical Allele Identifier: CA253652

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5912
• ClinVar RCV Id: RCV000006275 ; RCV000206975
• dbSNP Id: rs80338788
• ExAC: 17:62036629 C / T
• gnomAD v2: 17-62036629-C-T
• gnomAD v4: 17-63959269-C-T
• MyVariant Identifiers: chr17:g.62036629C>T (hg19) ; chr17:g.63959269C>T (hg38)
• PubMed: PMID:10944223 ; PMID:11912116 ; PMID:20301512 ; PMID:20301669

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63959269C>T , CM000679.2:g.63959269C>T	GRCh38
NC_000017.10:g.62036629C>T , CM000679.1:g.62036629C>T	GRCh37
NC_000017.9:g.59390361C>T	NCBI36
NG_011699.1:g.18650G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.2015G>A MANE Select	ENSP00000396320.1:p.Arg672His
ENST00000578147.5:c.2015G>A	ENSP00000463963.1:p.Arg672His
NM_000334.4:c.2015G>A MANE Select	NP_000325.4:p.Arg672His
XM_005257566.3:c.2015G>A	XP_005257623.1:p.Arg672His