Canonical Allele Identifier: CA227338
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99403
dbSNP Id: rs61751407
gnomAD v2: 1-94476351-C-T
gnomAD v3: 1-94010795-C-T
gnomAD v4: 1-94010795-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010795C>T , CM000663.2:g.94010795C>T GRCh38
NC_000001.10:g.94476351C>T , CM000663.1:g.94476351C>T GRCh37
NC_000001.9:g.94248939C>T NCBI36
NG_009073.1:g.115355G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5714+5G>A MANE Select ENSP00000359245.3:n.5714+5G>A
ENST00000370225.3:c.5714+5G>A ENSP00000359245.3:n.5714+5G>A
ENST00000465352.1:n.130+5G>A
ENST00000536513.5:c.2090+5G>A ENSP00000439707.2:n.2090+5G>A
NM_000350.2:c.5714+5G>A NP_000341.2:n.5714+5G>A
NM_000350.3:c.5714+5G>A MANE Select NP_000341.2:n.5714+5G>A