Canonical Allele Identifier: CA226936
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99087
dbSNP Id: rs61749412
gnomAD v2: 1-94528251-C-T
gnomAD v3: 1-94062695-C-T
gnomAD v4: 1-94062695-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062695C>T , CM000663.2:g.94062695C>T GRCh38
NC_000001.10:g.94528251C>T , CM000663.1:g.94528251C>T GRCh37
NC_000001.9:g.94300839C>T NCBI36
NG_009073.1:g.63455G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1819G>A MANE Select ENSP00000359245.3:p.Gly607Arg
ENST00000649773.1:c.1819G>A ENSP00000496882.1:p.Gly607Arg
ENST00000370225.3:c.1819G>A ENSP00000359245.3:p.Gly607Arg
ENST00000536513.5:c.-65+479G>A ENSP00000439707.2:n.-65+479G>A
NM_000350.2:c.1819G>A NP_000341.2:p.Gly607Arg
NM_000350.3:c.1819G>A MANE Select NP_000341.2:p.Gly607Arg