Canonical Allele Identifier: CA1004570420
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs946046443
gnomAD v3: 1-94056568-G-T
gnomAD v4: 1-94056568-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056568G>T , CM000663.2:g.94056568G>T GRCh38
NC_000001.10:g.94522124G>T , CM000663.1:g.94522124G>T GRCh37
NC_000001.9:g.94294712G>T NCBI36
NG_009073.1:g.69582C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+33C>A MANE Select ENSP00000359245.3:n.2382+33C>A
ENST00000649773.1:c.2161-1253C>A ENSP00000496882.1:n.2161-1253C>A
ENST00000370225.3:c.2382+33C>A ENSP00000359245.3:n.2382+33C>A
ENST00000536513.5:c.-65+6606C>A ENSP00000439707.2:n.-65+6606C>A
NM_000350.2:c.2382+33C>A NP_000341.2:n.2382+33C>A
NM_000350.3:c.2382+33C>A MANE Select NP_000341.2:n.2382+33C>A