Canonical Allele Identifier: CA958166
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298254
dbSNP Id: rs76305791
gnomAD v2: 1-94512654-G-A
gnomAD v3: 1-94047098-G-A
gnomAD v4: 1-94047098-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047098G>A , CM000663.2:g.94047098G>A GRCh38
NC_000001.10:g.94512654G>A , CM000663.1:g.94512654G>A GRCh37
NC_000001.9:g.94285242G>A NCBI36
NG_009073.1:g.79052C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-5C>T MANE Select ENSP00000359245.3:n.2744-5C>T
ENST00000649773.1:c.2522-5C>T ENSP00000496882.1:n.2522-5C>T
ENST00000370225.3:c.2744-5C>T ENSP00000359245.3:n.2744-5C>T
ENST00000536513.5:c.-64-7009C>T ENSP00000439707.2:n.-64-7009C>T
NM_000350.2:c.2744-5C>T NP_000341.2:n.2744-5C>T
NM_000350.3:c.2744-5C>T MANE Select NP_000341.2:n.2744-5C>T