Canonical Allele Identifier: CA501220272
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63947122-G-A
MyVariant Identifiers: chr17:g.62024482G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947122G>A , CM000679.2:g.63947122G>A GRCh38
NC_000017.10:g.62024482G>A , CM000679.1:g.62024482G>A GRCh37
NC_000017.9:g.59378214G>A NCBI36
NG_011699.1:g.30797C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3364C>T MANE Select ENSP00000396320.1:p.Leu1122=
ENST00000578147.5:c.3364C>T ENSP00000463963.1:p.Leu1122=
NM_000334.4:c.3364C>T MANE Select NP_000325.4:p.Leu1122=
XM_005257566.3:c.3364C>T XP_005257623.1:p.Leu1122=
Search 100 bp 5'
Search 100 bp 3'