Canonical Allele Identifier: CA2580063367
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2135011
ClinVar RCV Id: RCV003066075
gnomAD v4: 1-94000992-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94000992A>T , CM000663.2:g.94000992A>T GRCh38
NC_000001.10:g.94466548A>T , CM000663.1:g.94466548A>T GRCh37
NC_000001.9:g.94239136A>T NCBI36
NG_009073.1:g.125158T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6386+10T>A MANE Select ENSP00000359245.3:n.6386+10T>A
ENST00000370225.3:c.6386+10T>A ENSP00000359245.3:n.6386+10T>A
ENST00000536513.5:c.2762+10T>A ENSP00000439707.2:n.2762+10T>A
NM_000350.2:c.6386+10T>A NP_000341.2:n.6386+10T>A
NM_000350.3:c.6386+10T>A MANE Select NP_000341.2:n.6386+10T>A
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