Canonical Allele Identifier: CA501348660
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1270682421
gnomAD v2: 17-62022843-G-A
gnomAD v4: 17-63945483-G-A
MyVariant Identifiers: chr17:g.62022843G>A (hg19) chr17:g.63945483G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945483G>A , CM000679.2:g.63945483G>A GRCh38
NC_000017.10:g.62022843G>A , CM000679.1:g.62022843G>A GRCh37
NC_000017.9:g.59376575G>A NCBI36
NG_011699.1:g.32436C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3597C>T MANE Select ENSP00000396320.1:p.Asp1199=
ENST00000578147.5:c.3597C>T ENSP00000463963.1:p.Asp1199=
NM_000334.4:c.3597C>T MANE Select NP_000325.4:p.Asp1199=
XM_005257566.3:c.3597C>T XP_005257623.1:p.Asp1199=
Search 100 bp 5'
Search 100 bp 3'