Canonical Allele Identifier: CA501348591
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63941971-G-T
MyVariant Identifiers: chr17:g.62019331G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941971G>T , CM000679.2:g.63941971G>T GRCh38
NC_000017.10:g.62019331G>T , CM000679.1:g.62019331G>T GRCh37
NC_000017.9:g.59373063G>T NCBI36
NG_011699.1:g.35948C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4311C>A MANE Select ENSP00000396320.1:p.Ile1437=
ENST00000578147.5:c.4311C>A ENSP00000463963.1:p.Ile1437=
NM_000334.4:c.4311C>A MANE Select NP_000325.4:p.Ile1437=
XM_005257566.3:c.4311C>A XP_005257623.1:p.Ile1437=
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