Canonical Allele Identifier: CA227198
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99288
ClinVar RCV Id: RCV000085641 RCV000177442 RCV000210300 RCV000779003 RCV000787763 RCV002287365 RCV001542643
dbSNP Id: rs61751402
ExAC: 1:94495071 C / T
gnomAD v2: 1-94495071-C-T
gnomAD v3: 1-94029515-C-T
gnomAD v4: 1-94029515-C-T
MyVariant Identifiers: chr1:g.94495071C>T (hg19) chr1:g.94029515C>T (hg38)
PubMed: PMID:9973280 PMID:11017087 PMID:16103129 PMID:23695285 PMID:23891399 PMID:24713488 PMID:25082885 PMID:25097241 PMID:25472526 PMID:26872967 PMID:28041643 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029515C>T , CM000663.2:g.94029515C>T GRCh38
NC_000001.10:g.94495071C>T , CM000663.1:g.94495071C>T GRCh37
NC_000001.9:g.94267659C>T NCBI36
NG_009073.1:g.96635G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4469G>A MANE Select ENSP00000359245.3:p.Cys1490Tyr
ENST00000370225.3:c.4469G>A ENSP00000359245.3:p.Cys1490Tyr
ENST00000536513.5:c.845G>A ENSP00000439707.2:p.Cys282Tyr
NM_000350.2:c.4469G>A NP_000341.2:p.Cys1490Tyr
NM_000350.3:c.4469G>A MANE Select NP_000341.2:p.Cys1490Tyr
Search 100 bp 5'
Search 100 bp 3'