Canonical Allele Identifier: CA524697547
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1389402966
gnomAD v2: 1-94522128-T-C
gnomAD v3: 1-94056572-T-C
gnomAD v4: 1-94056572-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056572T>C , CM000663.2:g.94056572T>C GRCh38
NC_000001.10:g.94522128T>C , CM000663.1:g.94522128T>C GRCh37
NC_000001.9:g.94294716T>C NCBI36
NG_009073.1:g.69578A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+29A>G MANE Select ENSP00000359245.3:n.2382+29A>G
ENST00000649773.1:c.2161-1257A>G ENSP00000496882.1:n.2161-1257A>G
ENST00000370225.3:c.2382+29A>G ENSP00000359245.3:n.2382+29A>G
ENST00000536513.5:c.-65+6602A>G ENSP00000439707.2:n.-65+6602A>G
NM_000350.2:c.2382+29A>G NP_000341.2:n.2382+29A>G
NM_000350.3:c.2382+29A>G MANE Select NP_000341.2:n.2382+29A>G