Canonical Allele Identifier: CA958364
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 288341
dbSNP Id: rs575453437
gnomAD v2: 1-94526230-C-T
gnomAD v3: 1-94060674-C-T
gnomAD v4: 1-94060674-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060674C>T , CM000663.2:g.94060674C>T GRCh38
NC_000001.10:g.94526230C>T , CM000663.1:g.94526230C>T GRCh37
NC_000001.9:g.94298818C>T NCBI36
NG_009073.1:g.65476G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2023G>A MANE Select ENSP00000359245.3:p.Val675Ile
ENST00000649773.1:c.2023G>A ENSP00000496882.1:p.Val675Ile
ENST00000370225.3:c.2023G>A ENSP00000359245.3:p.Val675Ile
ENST00000472033.1:n.143G>A
ENST00000536513.5:c.-65+2500G>A ENSP00000439707.2:n.-65+2500G>A
NM_000350.2:c.2023G>A NP_000341.2:p.Val675Ile
NM_000350.3:c.2023G>A MANE Select NP_000341.2:p.Val675Ile