Canonical Allele Identifier: CA8708948
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs775872192
ExAC: 17:62019109 C / T
gnomAD v2: 17-62019109-C-T
gnomAD v3: 17-63941749-C-T
gnomAD v4: 17-63941749-C-T
MyVariant Identifiers: chr17:g.62019109C>T (hg19) chr17:g.63941749C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941749C>T , CM000679.2:g.63941749C>T GRCh38
NC_000017.10:g.62019109C>T , CM000679.1:g.62019109C>T GRCh37
NC_000017.9:g.59372841C>T NCBI36
NG_011699.1:g.36170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4533G>A MANE Select ENSP00000396320.1:p.Ser1511=
ENST00000578147.5:c.4533G>A ENSP00000463963.1:p.Ser1511=
NM_000334.4:c.4533G>A MANE Select NP_000325.4:p.Ser1511=
XM_005257566.3:c.4533G>A XP_005257623.1:p.Ser1511=
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