Canonical Allele Identifier: CA8708983
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 386475
ClinVar RCV Id: RCV000420447 RCV000951412
dbSNP Id: rs757915411
ExAC: 17:62019283 C / T
gnomAD v2: 17-62019283-C-T
gnomAD v3: 17-63941923-C-T
gnomAD v4: 17-63941923-C-T
COSMIC: COSM4648063
MyVariant Identifiers: chr17:g.62019283C>T (hg19) chr17:g.63941923C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941923C>T , CM000679.2:g.63941923C>T GRCh38
NC_000017.10:g.62019283C>T , CM000679.1:g.62019283C>T GRCh37
NC_000017.9:g.59373015C>T NCBI36
NG_011699.1:g.35996G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4359G>A MANE Select ENSP00000396320.1:p.Ala1453=
ENST00000578147.5:c.4359G>A ENSP00000463963.1:p.Ala1453=
NM_000334.4:c.4359G>A MANE Select NP_000325.4:p.Ala1453=
XM_005257566.3:c.4359G>A XP_005257623.1:p.Ala1453=
Search 100 bp 5'
Search 100 bp 3'