Canonical Allele Identifier: CA8709222
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 477418
ClinVar RCV Id: RCV000534297 RCV000658059
dbSNP Id: rs754401226
ExAC: 17:62022818 C / G
gnomAD v2: 17-62022818-C-G
gnomAD v3: 17-63945458-C-G
gnomAD v4: 17-63945458-C-G
MyVariant Identifiers: chr17:g.62022818C>G (hg19) chr17:g.63945458C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945458C>G , CM000679.2:g.63945458C>G GRCh38
NC_000017.10:g.62022818C>G , CM000679.1:g.62022818C>G GRCh37
NC_000017.9:g.59376550C>G NCBI36
NG_011699.1:g.32461G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3622G>C MANE Select ENSP00000396320.1:p.Glu1208Gln
ENST00000578147.5:c.3622G>C ENSP00000463963.1:p.Glu1208Gln
NM_000334.4:c.3622G>C MANE Select NP_000325.4:p.Glu1208Gln
XM_005257566.3:c.3622G>C XP_005257623.1:p.Glu1208Gln
Search 100 bp 5'
Search 100 bp 3'