Canonical Allele Identifier: CA8708781
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs757917431
ExAC: 17:62018307 T / A
gnomAD v2: 17-62018307-T-A
gnomAD v4: 17-63940947-T-A
MyVariant Identifiers: chr17:g.62018307T>A (hg19) chr17:g.63940947T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63940947T>A , CM000679.2:g.63940947T>A GRCh38
NC_000017.10:g.62018307T>A , CM000679.1:g.62018307T>A GRCh37
NC_000017.9:g.59372039T>A NCBI36
NG_011699.1:g.36972A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5335A>T MANE Select ENSP00000396320.1:p.Met1779Leu
ENST00000578147.5:c.5335A>T ENSP00000463963.1:p.Met1779Leu
NM_000334.4:c.5335A>T MANE Select NP_000325.4:p.Met1779Leu
XM_005257566.3:c.5335A>T XP_005257623.1:p.Met1779Leu
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