Canonical Allele Identifier: CA10640206

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324501
• ClinVar RCV Id: RCV000289000 ; RCV000293949 ; RCV000351216 ; RCV000346264 ; RCV000389473
• dbSNP Id: rs140026321
• gnomAD v2: 17-62018002-C-A
• gnomAD v3: 17-63940642-C-A
• gnomAD v4: 17-63940642-C-A
• MyVariant Identifiers: chr17:g.62018002C>A (hg19) ; chr17:g.63940642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63940642C>A , CM000679.2:g.63940642C>A	GRCh38
NC_000017.10:g.62018002C>A , CM000679.1:g.62018002C>A	GRCh37
NC_000017.9:g.59371734C>A	NCBI36
NG_011699.1:g.37277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.*129G>T MANE Select	ENSP00000396320.1:n.*129G>T
ENST00000578147.5:c.*129G>T	ENSP00000463963.1:n.*129G>T
NM_000334.4:c.*129G>T MANE Select	NP_000325.4:n.*129G>T
XM_005257566.3:c.*129G>T	XP_005257623.1:n.*129G>T