Canonical Allele Identifier: CA227422
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99473
ClinVar RCV Id: RCV000085834 RCV000408488 RCV003888484
dbSNP Id: rs61753045
gnomAD v4: 1-93997981-G-T
MyVariant Identifiers: chr1:g.94463537G>T (hg19) chr1:g.93997981G>T (hg38)
PubMed: PMID:10958763 PMID:25525159 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997981G>T , CM000663.2:g.93997981G>T GRCh38
NC_000001.10:g.94463537G>T , CM000663.1:g.94463537G>T GRCh37
NC_000001.9:g.94236125G>T NCBI36
NG_009073.1:g.128169C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6609C>A MANE Select ENSP00000359245.3:p.Tyr2203Ter
ENST00000370225.3:c.6609C>A ENSP00000359245.3:p.Tyr2203Ter
ENST00000536513.5:c.2985C>A ENSP00000439707.2:p.Tyr995Ter
NM_000350.2:c.6609C>A NP_000341.2:p.Tyr2203Ter
NM_000350.3:c.6609C>A MANE Select NP_000341.2:p.Tyr2203Ter
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