Canonical Allele Identifier: CA958285
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs750699433
gnomAD v2: 1-94522121-C-T
gnomAD v3: 1-94056565-C-T
gnomAD v4: 1-94056565-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056565C>T , CM000663.2:g.94056565C>T GRCh38
NC_000001.10:g.94522121C>T , CM000663.1:g.94522121C>T GRCh37
NC_000001.9:g.94294709C>T NCBI36
NG_009073.1:g.69585G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+36G>A MANE Select ENSP00000359245.3:n.2382+36G>A
ENST00000649773.1:c.2161-1250G>A ENSP00000496882.1:n.2161-1250G>A
ENST00000370225.3:c.2382+36G>A ENSP00000359245.3:n.2382+36G>A
ENST00000536513.5:c.-65+6609G>A ENSP00000439707.2:n.-65+6609G>A
NM_000350.2:c.2382+36G>A NP_000341.2:n.2382+36G>A
NM_000350.3:c.2382+36G>A MANE Select NP_000341.2:n.2382+36G>A