Canonical Allele Identifier: CA226929
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99082
ClinVar RCV Id: RCV000085426
dbSNP Id: rs61752397
gnomAD v2: 1-94528272-C-A
gnomAD v4: 1-94062716-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062716C>A , CM000663.2:g.94062716C>A GRCh38
NC_000001.10:g.94528272C>A , CM000663.1:g.94528272C>A GRCh37
NC_000001.9:g.94300860C>A NCBI36
NG_009073.1:g.63434G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1798G>T MANE Select ENSP00000359245.3:p.Asp600Tyr
ENST00000649773.1:c.1798G>T ENSP00000496882.1:p.Asp600Tyr
ENST00000370225.3:c.1798G>T ENSP00000359245.3:p.Asp600Tyr
ENST00000536513.5:c.-65+458G>T ENSP00000439707.2:n.-65+458G>T
NM_000350.2:c.1798G>T NP_000341.2:p.Asp600Tyr
NM_000350.3:c.1798G>T MANE Select NP_000341.2:p.Asp600Tyr