Canonical Allele Identifier: CA10640210

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324503
• ClinVar RCV Id: RCV000273794 ; RCV000299249 ; RCV000356463 ; RCV000353404 ; RCV000390582
• dbSNP Id: rs566876110
• gnomAD v2: 17-62018045-C-A
• gnomAD v3: 17-63940685-C-A
• gnomAD v4: 17-63940685-C-A
• MyVariant Identifiers: chr17:g.62018045C>A (hg19) ; chr17:g.63940685C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63940685C>A , CM000679.2:g.63940685C>A	GRCh38
NC_000017.10:g.62018045C>A , CM000679.1:g.62018045C>A	GRCh37
NC_000017.9:g.59371777C>A	NCBI36
NG_011699.1:g.37234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.*86G>T MANE Select	ENSP00000396320.1:n.*86G>T
ENST00000578147.5:c.*86G>T	ENSP00000463963.1:n.*86G>T
NM_000334.4:c.*86G>T MANE Select	NP_000325.4:n.*86G>T
XM_005257566.3:c.*86G>T	XP_005257623.1:n.*86G>T