Canonical Allele Identifier: CA957149
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1232285
ClinVar RCV Id: RCV001612917
dbSNP Id: rs112614086
ExAC: 1:94476203 CT / C
gnomAD v2: 1-94476203-CT-C
gnomAD v3: 1-94010647-CT-C
gnomAD v4: 1-94010647-CT-C
COSMIC: COSN15631934 COSN15634867 COSN15635694 COSN15638227 COSN15639123 COSN15639938 COSN15646554
MyVariant Identifiers: chr1:g.94476204del (hg19) chr1:g.94010648del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010648del , CM000663.2:g.94010648del GRCh38
NC_000001.10:g.94476204del , CM000663.1:g.94476204del GRCh37
NC_000001.9:g.94248792del NCBI36
NG_009073.1:g.115502del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+152del MANE Select ENSP00000359245.3:n.5714+152del
ENST00000370225.3:c.5714+152del ENSP00000359245.3:n.5714+152del
ENST00000465352.1:n.130+152del
ENST00000536513.5:c.2090+152del ENSP00000439707.2:n.2090+152del
NM_000350.2:c.5714+152del NP_000341.2:n.5714+152del
NM_000350.3:c.5714+152del MANE Select NP_000341.2:n.5714+152del
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