Canonical Allele Identifier: CA227181
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99274
ClinVar RCV Id: RCV000085627 RCV000408575 RCV000778256 RCV003888475
dbSNP Id: rs56357060
ExAC: 1:94496039 C / T
gnomAD v2: 1-94496039-C-T
gnomAD v3: 1-94030483-C-T
gnomAD v4: 1-94030483-C-T
COSMIC: COSM1344994
MyVariant Identifiers: chr1:g.94496039C>T (hg19) chr1:g.94030483C>T (hg38)
PubMed: PMID:9973280 PMID:20981092 PMID:22025579 PMID:22264887 PMID:22995991 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030483C>T , CM000663.2:g.94030483C>T GRCh38
NC_000001.10:g.94496039C>T , CM000663.1:g.94496039C>T GRCh37
NC_000001.9:g.94268627C>T NCBI36
NG_009073.1:g.95667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4297G>A MANE Select ENSP00000359245.3:p.Val1433Ile
ENST00000370225.3:c.4297G>A ENSP00000359245.3:p.Val1433Ile
ENST00000536513.5:c.673G>A ENSP00000439707.2:p.Val225Ile
NM_000350.2:c.4297G>A NP_000341.2:p.Val1433Ile
NM_000350.3:c.4297G>A MANE Select NP_000341.2:p.Val1433Ile
Search 100 bp 5'
Search 100 bp 3'