Canonical Allele Identifier: CA8708803
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2729092
ClinVar RCV Id: RCV003506383
dbSNP Id: rs780708769
ExAC: 17:62018402 A / G
gnomAD v2: 17-62018402-A-G
gnomAD v3: 17-63941042-A-G
gnomAD v4: 17-63941042-A-G
MyVariant Identifiers: chr17:g.62018402A>G (hg19) chr17:g.63941042A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941042A>G , CM000679.2:g.63941042A>G GRCh38
NC_000017.10:g.62018402A>G , CM000679.1:g.62018402A>G GRCh37
NC_000017.9:g.59372134A>G NCBI36
NG_011699.1:g.36877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5240T>C MANE Select ENSP00000396320.1:p.Met1747Thr
ENST00000578147.5:c.5240T>C ENSP00000463963.1:p.Met1747Thr
NM_000334.4:c.5240T>C MANE Select NP_000325.4:p.Met1747Thr
XM_005257566.3:c.5240T>C XP_005257623.1:p.Met1747Thr
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