Canonical Allele Identifier: CA10611639
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298253
dbSNP Id: rs886046565
gnomAD v2: 1-94509019-A-C
gnomAD v4: 1-94043463-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043463A>C , CM000663.2:g.94043463A>C GRCh38
NC_000001.10:g.94509019A>C , CM000663.1:g.94509019A>C GRCh37
NC_000001.9:g.94281607A>C NCBI36
NG_009073.1:g.82687T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3063T>G MANE Select ENSP00000359245.3:p.Ala1021=
ENST00000370225.3:c.3063T>G ENSP00000359245.3:p.Ala1021=
ENST00000536513.5:c.-64-3374T>G ENSP00000439707.2:n.-64-3374T>G
NM_000350.2:c.3063T>G NP_000341.2:p.Ala1021=
NM_000350.3:c.3063T>G MANE Select NP_000341.2:p.Ala1021=