Canonical Allele Identifier: CA226965
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99108
dbSNP Id: rs61749420
gnomAD v2: 1-94526296-G-A
gnomAD v3: 1-94060740-G-A
gnomAD v4: 1-94060740-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060740G>A , CM000663.2:g.94060740G>A GRCh38
NC_000001.10:g.94526296G>A , CM000663.1:g.94526296G>A GRCh37
NC_000001.9:g.94298884G>A NCBI36
NG_009073.1:g.65410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1957C>T MANE Select ENSP00000359245.3:p.Arg653Cys
ENST00000649773.1:c.1957C>T ENSP00000496882.1:p.Arg653Cys
ENST00000370225.3:c.1957C>T ENSP00000359245.3:p.Arg653Cys
ENST00000472033.1:n.77C>T
ENST00000536513.5:c.-65+2434C>T ENSP00000439707.2:n.-65+2434C>T
NM_000350.2:c.1957C>T NP_000341.2:p.Arg653Cys
NM_000350.3:c.1957C>T MANE Select NP_000341.2:p.Arg653Cys