Canonical Allele Identifier: CA8709636
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 543828
ClinVar RCV Id: RCV000654698
dbSNP Id: rs751675273
ExAC: 17:62034690 G / A
gnomAD v2: 17-62034690-G-A
gnomAD v3: 17-63957330-G-A
gnomAD v4: 17-63957330-G-A
MyVariant Identifiers: chr17:g.62034690G>A (hg19) chr17:g.63957330G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63957330G>A , CM000679.2:g.63957330G>A GRCh38
NC_000017.10:g.62034690G>A , CM000679.1:g.62034690G>A GRCh37
NC_000017.9:g.59388422G>A NCBI36
NG_011699.1:g.20589C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2208C>T MANE Select ENSP00000396320.1:p.Asp736=
ENST00000578147.5:c.2208C>T ENSP00000463963.1:p.Asp736=
NM_000334.4:c.2208C>T MANE Select NP_000325.4:p.Asp736=
XM_005257566.3:c.2208C>T XP_005257623.1:p.Asp736=
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