Canonical Allele Identifier: CA345719

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 143200
• ClinVar RCV Id: RCV000132736 ; RCV000395392 ; RCV000547264 ; RCV000995863 ; RCV001127055 ; RCV001127056
• dbSNP Id: rs527236149
• ExAC: 17:62024460 C / T
• gnomAD v2: 17-62024460-C-T
• gnomAD v3: 17-63947100-C-T
• gnomAD v4: 17-63947100-C-T
• MyVariant Identifiers: chr17:g.62024460C>T (hg19) ; chr17:g.63947100C>T (hg38)
• PubMed: PMID:20301512

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947100C>T , CM000679.2:g.63947100C>T	GRCh38
NC_000017.10:g.62024460C>T , CM000679.1:g.62024460C>T	GRCh37
NC_000017.9:g.59378192C>T	NCBI36
NG_011699.1:g.30819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3386G>A MANE Select	ENSP00000396320.1:p.Arg1129Gln
ENST00000578147.5:c.3386G>A	ENSP00000463963.1:p.Arg1129Gln
NM_000334.4:c.3386G>A MANE Select	NP_000325.4:p.Arg1129Gln
XM_005257566.3:c.3386G>A	XP_005257623.1:p.Arg1129Gln