Canonical Allele Identifier: CA400630199
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 945495
ClinVar RCV Id: RCV001216148 RCV002473223
dbSNP Id: rs1397719163
gnomAD v2: 17-62034691-T-C
gnomAD v3: 17-63957331-T-C
gnomAD v4: 17-63957331-T-C
COSMIC: COSM1385243
MyVariant Identifiers: chr17:g.62034691T>C (hg19) chr17:g.63957331T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63957331T>C , CM000679.2:g.63957331T>C GRCh38
NC_000017.10:g.62034691T>C , CM000679.1:g.62034691T>C GRCh37
NC_000017.9:g.59388423T>C NCBI36
NG_011699.1:g.20588A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2207A>G MANE Select ENSP00000396320.1:p.Asp736Gly
ENST00000578147.5:c.2207A>G ENSP00000463963.1:p.Asp736Gly
NM_000334.4:c.2207A>G MANE Select NP_000325.4:p.Asp736Gly
XM_005257566.3:c.2207A>G XP_005257623.1:p.Asp736Gly
Search 100 bp 5'
Search 100 bp 3'