Canonical Allele Identifier: CA292957157
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs377064207
gnomAD v4: 17-63941818-G-C
MyVariant Identifiers: chr17:g.62019178G>C (hg19) chr17:g.63941818G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941818G>C , CM000679.2:g.63941818G>C GRCh38
NC_000017.10:g.62019178G>C , CM000679.1:g.62019178G>C GRCh37
NC_000017.9:g.59372910G>C NCBI36
NG_011699.1:g.36101C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4464C>G MANE Select ENSP00000396320.1:p.Leu1488=
ENST00000578147.5:c.4464C>G ENSP00000463963.1:p.Leu1488=
NM_000334.4:c.4464C>G MANE Select NP_000325.4:p.Leu1488=
XM_005257566.3:c.4464C>G XP_005257623.1:p.Leu1488=
Search 100 bp 5'
Search 100 bp 3'