Canonical Allele Identifier: CA400613164
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1255100052
gnomAD v2: 17-62018383-C-A
gnomAD v3: 17-63941023-C-A
gnomAD v4: 17-63941023-C-A
MyVariant Identifiers: chr17:g.62018383C>A (hg19) chr17:g.63941023C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941023C>A , CM000679.2:g.63941023C>A GRCh38
NC_000017.10:g.62018383C>A , CM000679.1:g.62018383C>A GRCh37
NC_000017.9:g.59372115C>A NCBI36
NG_011699.1:g.36896G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5259G>T MANE Select ENSP00000396320.1:p.Met1753Ile
ENST00000578147.5:c.5259G>T ENSP00000463963.1:p.Met1753Ile
NM_000334.4:c.5259G>T MANE Select NP_000325.4:p.Met1753Ile
XM_005257566.3:c.5259G>T XP_005257623.1:p.Met1753Ile
Search 100 bp 5'
Search 100 bp 3'