Canonical Allele Identifier: CA956992
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1457651
ClinVar RCV Id: RCV001949300
dbSNP Id: rs61753040
gnomAD v2: 1-94467506-C-T
gnomAD v3: 1-94001950-C-T
gnomAD v4: 1-94001950-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001950C>T , CM000663.2:g.94001950C>T GRCh38
NC_000001.10:g.94467506C>T , CM000663.1:g.94467506C>T GRCh37
NC_000001.9:g.94240094C>T NCBI36
NG_009073.1:g.124200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6190G>A MANE Select ENSP00000359245.3:p.Ala2064Thr
ENST00000370225.3:c.6190G>A ENSP00000359245.3:p.Ala2064Thr
ENST00000465352.1:n.606G>A
ENST00000536513.5:c.2566G>A ENSP00000439707.2:p.Ala856Thr
NM_000350.2:c.6190G>A NP_000341.2:p.Ala2064Thr
NM_000350.3:c.6190G>A MANE Select NP_000341.2:p.Ala2064Thr