Canonical Allele Identifier: CA8708784
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 946964
ClinVar RCV Id: RCV001217931
dbSNP Id: rs768251194
ExAC: 17:62018336 T / G
gnomAD v2: 17-62018336-T-G
gnomAD v4: 17-63940976-T-G
MyVariant Identifiers: chr17:g.62018336T>G (hg19) chr17:g.63940976T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63940976T>G , CM000679.2:g.63940976T>G GRCh38
NC_000017.10:g.62018336T>G , CM000679.1:g.62018336T>G GRCh37
NC_000017.9:g.59372068T>G NCBI36
NG_011699.1:g.36943A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5306A>C MANE Select ENSP00000396320.1:p.Glu1769Ala
ENST00000578147.5:c.5306A>C ENSP00000463963.1:p.Glu1769Ala
NM_000334.4:c.5306A>C MANE Select NP_000325.4:p.Glu1769Ala
XM_005257566.3:c.5306A>C XP_005257623.1:p.Glu1769Ala
Search 100 bp 5'
Search 100 bp 3'