Canonical Allele Identifier: CA227425
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99476
dbSNP Id: rs61753046
gnomAD v2: 1-94463488-G-A
gnomAD v3: 1-93997932-G-A
gnomAD v4: 1-93997932-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997932G>A , CM000663.2:g.93997932G>A GRCh38
NC_000001.10:g.94463488G>A , CM000663.1:g.94463488G>A GRCh37
NC_000001.9:g.94236076G>A NCBI36
NG_009073.1:g.128218C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6658C>T MANE Select ENSP00000359245.3:p.Gln2220Ter
ENST00000370225.3:c.6658C>T ENSP00000359245.3:p.Gln2220Ter
ENST00000536513.5:c.3034C>T ENSP00000439707.2:p.Gln1012Ter
NM_000350.2:c.6658C>T NP_000341.2:p.Gln2220Ter
NM_000350.3:c.6658C>T MANE Select NP_000341.2:p.Gln2220Ter