Canonical Allele Identifier: CA957105
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 255925
ClinVar RCV Id: RCV000242440 RCV001541669 RCV001548901 RCV001549135 RCV001548900 RCV001549134
dbSNP Id: rs2275031
ExAC: 1:94473896 G / T
gnomAD v2: 1-94473896-G-T
gnomAD v3: 1-94008340-G-T
gnomAD v4: 1-94008340-G-T
MyVariant Identifiers: chr1:g.94473896G>T (hg19) chr1:g.94008340G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008340G>T , CM000663.2:g.94008340G>T GRCh38
NC_000001.10:g.94473896G>T , CM000663.1:g.94473896G>T GRCh37
NC_000001.9:g.94246484G>T NCBI36
NG_009073.1:g.117810C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5836-43C>A MANE Select ENSP00000359245.3:n.5836-43C>A
ENST00000370225.3:c.5836-43C>A ENSP00000359245.3:n.5836-43C>A
ENST00000465352.1:n.252-43C>A
ENST00000536513.5:c.2212-43C>A ENSP00000439707.2:n.2212-43C>A
NM_000350.2:c.5836-43C>A NP_000341.2:n.5836-43C>A
NM_000350.3:c.5836-43C>A MANE Select NP_000341.2:n.5836-43C>A
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