Canonical Allele Identifier: CA226990
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99127
ClinVar RCV Id: RCV000085471 RCV000408526 RCV001074642
dbSNP Id: rs61751395
ExAC: 1:94522239 A / T
gnomAD v2: 1-94522239-A-T
gnomAD v3: 1-94056683-A-T
gnomAD v4: 1-94056683-A-T
MyVariant Identifiers: chr1:g.94522239A>T (hg19) chr1:g.94056683A>T (hg38)
PubMed: PMID:10711710 PMID:11687513 PMID:24713488 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056683A>T , CM000663.2:g.94056683A>T GRCh38
NC_000001.10:g.94522239A>T , CM000663.1:g.94522239A>T GRCh37
NC_000001.9:g.94294827A>T NCBI36
NG_009073.1:g.69467T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2300T>A MANE Select ENSP00000359245.3:p.Val767Asp
ENST00000649773.1:c.2161-1368T>A ENSP00000496882.1:n.2161-1368T>A
ENST00000370225.3:c.2300T>A ENSP00000359245.3:p.Val767Asp
ENST00000536513.5:c.-65+6491T>A ENSP00000439707.2:n.-65+6491T>A
NM_000350.2:c.2300T>A NP_000341.2:p.Val767Asp
NM_000350.3:c.2300T>A MANE Select NP_000341.2:p.Val767Asp
Search 100 bp 5'
Search 100 bp 3'