Canonical Allele Identifier: CA501226942
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63971745-C-A
MyVariant Identifiers: chr17:g.62049105C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971745C>A , CM000679.2:g.63971745C>A GRCh38
NC_000017.10:g.62049105C>A , CM000679.1:g.62049105C>A GRCh37
NC_000017.9:g.59402837C>A NCBI36
NG_011699.1:g.6174G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.588G>T MANE Select ENSP00000396320.1:p.Leu196=
ENST00000578147.5:c.588G>T ENSP00000463963.1:p.Leu196=
NM_000334.4:c.588G>T MANE Select NP_000325.4:p.Leu196=
XM_005257566.3:c.588G>T XP_005257623.1:p.Leu196=
Search 100 bp 5'
Search 100 bp 3'