Canonical Allele Identifier: CA418821753
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2855091
ClinVar RCV Id: RCV003701230
dbSNP Id: rs1659892219
gnomAD v4: 1-94021380-G-A
MyVariant Identifiers: chr1:g.94486936G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021380G>A , CM000663.2:g.94021380G>A GRCh38
NC_000001.10:g.94486936G>A , CM000663.1:g.94486936G>A GRCh37
NC_000001.9:g.94259524G>A NCBI36
NG_009073.1:g.104770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4878C>T MANE Select ENSP00000359245.3:p.Ala1626=
ENST00000370225.3:c.4878C>T ENSP00000359245.3:p.Ala1626=
ENST00000460514.1:n.372C>T
ENST00000536513.5:c.1254C>T ENSP00000439707.2:p.Ala418=
NM_000350.2:c.4878C>T NP_000341.2:p.Ala1626=
NM_000350.3:c.4878C>T MANE Select NP_000341.2:p.Ala1626=
Search 100 bp 5'
Search 100 bp 3'