Canonical Allele Identifier: CA956972
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1898582
ClinVar RCV Id: RCV002579880
dbSNP Id: rs779183286
gnomAD v2: 1-94467395-G-A
gnomAD v3: 1-94001839-G-A
gnomAD v4: 1-94001839-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001839G>A , CM000663.2:g.94001839G>A GRCh38
NC_000001.10:g.94467395G>A , CM000663.1:g.94467395G>A GRCh37
NC_000001.9:g.94239983G>A NCBI36
NG_009073.1:g.124311C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+19C>T MANE Select ENSP00000359245.3:n.6282+19C>T
ENST00000370225.3:c.6282+19C>T ENSP00000359245.3:n.6282+19C>T
ENST00000465352.1:n.717C>T
ENST00000536513.5:c.2658+19C>T ENSP00000439707.2:n.2658+19C>T
NM_000350.2:c.6282+19C>T NP_000341.2:n.6282+19C>T
NM_000350.3:c.6282+19C>T MANE Select NP_000341.2:n.6282+19C>T