Canonical Allele Identifier: CA2646649333
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94030633-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030633C>T , CM000663.2:g.94030633C>T GRCh38
NC_000001.10:g.94496189C>T , CM000663.1:g.94496189C>T GRCh37
NC_000001.9:g.94268777C>T NCBI36
NG_009073.1:g.95517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-107G>A MANE Select ENSP00000359245.3:n.4254-107G>A
ENST00000370225.3:c.4254-107G>A ENSP00000359245.3:n.4254-107G>A
ENST00000536513.5:c.630-107G>A ENSP00000439707.2:n.630-107G>A
NM_000350.2:c.4254-107G>A NP_000341.2:n.4254-107G>A
NM_000350.3:c.4254-107G>A MANE Select NP_000341.2:n.4254-107G>A
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