Canonical Allele Identifier: CA501348566
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62022726C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945366C>G , CM000679.2:g.63945366C>G GRCh38
NC_000017.10:g.62022726C>G , CM000679.1:g.62022726C>G GRCh37
NC_000017.9:g.59376458C>G NCBI36
NG_011699.1:g.32553G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3714G>C MANE Select ENSP00000396320.1:p.Leu1238=
ENST00000578147.5:c.3714G>C ENSP00000463963.1:p.Leu1238=
NM_000334.4:c.3714G>C MANE Select NP_000325.4:p.Leu1238=
XM_005257566.3:c.3714G>C XP_005257623.1:p.Leu1238=