Canonical Allele Identifier: CA501224881
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62029237C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63951877C>G , CM000679.2:g.63951877C>G GRCh38
NC_000017.10:g.62029237C>G , CM000679.1:g.62029237C>G GRCh37
NC_000017.9:g.59382969C>G NCBI36
NG_011699.1:g.26042G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2400G>C MANE Select ENSP00000396320.1:p.Leu800=
ENST00000578147.5:c.2400G>C ENSP00000463963.1:p.Leu800=
NM_000334.4:c.2400G>C MANE Select NP_000325.4:p.Leu800=
XM_005257566.3:c.2400G>C XP_005257623.1:p.Leu800=
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