Canonical Allele Identifier: CA2499306149
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1048131
ClinVar RCV Id: RCV001352965
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.[94010795C>T;94010911T>A] , CM000663.2:g.[94010795C>T;94010911T>A] GRCh38
NC_000001.10:g.[94476351C>T;94476467T>A] , CM000663.1:g.[94476351C>T;94476467T>A] GRCh37
NC_000001.9:g.[94248939C>T;94249055T>A] NCBI36
NG_009073.1:g.[115239A>T;115355G>A]

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.[5603A>T;5714+5G>A] MANE Select ENSP00000359245.3:p.Asn1868Ile
ENST00000370225.3:c.[5603A>T;5714+5G>A] ENSP00000359245.3:p.Asn1868Ile
ENST00000465352.1:n.[19A>T;130+5G>A]
ENST00000536513.5:c.[1979A>T;2090+5G>A] ENSP00000439707.2:p.Asn660Ile
NM_000350.2:c.[5603A>T;5714+5G>A] NP_000341.2:p.Asn1868Ile
NM_000350.3:c.[5603A>T;5714+5G>A] MANE Select NP_000341.2:p.Asn1868Ile
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