Canonical Allele Identifier: CA2573132691
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1505518
ClinVar RCV Id: RCV001999527
dbSNP Id: rs2101023649
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021717A>G , CM000663.2:g.94021717A>G GRCh38
NC_000001.10:g.94487273A>G , CM000663.1:g.94487273A>G GRCh37
NC_000001.9:g.94259861A>G NCBI36
NG_009073.1:g.104433T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4774-3T>C MANE Select ENSP00000359245.3:n.4774-3T>C
ENST00000370225.3:c.4774-3T>C ENSP00000359245.3:n.4774-3T>C
ENST00000460514.1:n.268-3T>C
ENST00000536513.5:c.1150-3T>C ENSP00000439707.2:n.1150-3T>C
NM_000350.2:c.4774-3T>C NP_000341.2:n.4774-3T>C
NM_000350.3:c.4774-3T>C MANE Select NP_000341.2:n.4774-3T>C
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