Canonical Allele Identifier: CA227399
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99455
ClinVar RCV Id: RCV000085815
dbSNP Id: rs61750651
gnomAD v2: 1-94466561-T-C
gnomAD v4: 1-94001005-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001005T>C , CM000663.2:g.94001005T>C GRCh38
NC_000001.10:g.94466561T>C , CM000663.1:g.94466561T>C GRCh37
NC_000001.9:g.94239149T>C NCBI36
NG_009073.1:g.125145A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6383A>G MANE Select ENSP00000359245.3:p.His2128Arg
ENST00000370225.3:c.6383A>G ENSP00000359245.3:p.His2128Arg
ENST00000536513.5:c.2759A>G ENSP00000439707.2:p.His920Arg
NM_000350.2:c.6383A>G NP_000341.2:p.His2128Arg
NM_000350.3:c.6383A>G MANE Select NP_000341.2:p.His2128Arg