Canonical Allele Identifier: CA8709133
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2178466
ClinVar RCV Id: RCV002595551
dbSNP Id: rs201295224
ExAC: 17:62022150 G / A
gnomAD v2: 17-62022150-G-A
gnomAD v3: 17-63944790-G-A
gnomAD v4: 17-63944790-G-A
MyVariant Identifiers: chr17:g.62022150G>A (hg19) chr17:g.63944790G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944790G>A , CM000679.2:g.63944790G>A GRCh38
NC_000017.10:g.62022150G>A , CM000679.1:g.62022150G>A GRCh37
NC_000017.9:g.59375882G>A NCBI36
NG_011699.1:g.33129C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3795C>T MANE Select ENSP00000396320.1:p.Tyr1265=
ENST00000578147.5:c.3795C>T ENSP00000463963.1:p.Tyr1265=
NM_000334.4:c.3795C>T MANE Select NP_000325.4:p.Tyr1265=
XM_005257566.3:c.3795C>T XP_005257623.1:p.Tyr1265=
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