Canonical Allele Identifier: CA292957285
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 571221
ClinVar RCV Id: RCV000692303
dbSNP Id: rs771340029
gnomAD v3: 17-63941894-C-A
gnomAD v4: 17-63941894-C-A
MyVariant Identifiers: chr17:g.62019254C>A (hg19) chr17:g.63941894C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941894C>A , CM000679.2:g.63941894C>A GRCh38
NC_000017.10:g.62019254C>A , CM000679.1:g.62019254C>A GRCh37
NC_000017.9:g.59372986C>A NCBI36
NG_011699.1:g.36025G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4388G>T MANE Select ENSP00000396320.1:p.Arg1463Leu
ENST00000578147.5:c.4388G>T ENSP00000463963.1:p.Arg1463Leu
NM_000334.4:c.4388G>T MANE Select NP_000325.4:p.Arg1463Leu
XM_005257566.3:c.4388G>T XP_005257623.1:p.Arg1463Leu
Search 100 bp 5'
Search 100 bp 3'