Canonical Allele Identifier: CA2499214882
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213853
ClinVar RCV Id: RCV001591795
dbSNP Id: rs2101023661
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021723C>T , CM000663.2:g.94021723C>T GRCh38
NC_000001.10:g.94487279C>T , CM000663.1:g.94487279C>T GRCh37
NC_000001.9:g.94259867C>T NCBI36
NG_009073.1:g.104427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4774-9G>A MANE Select ENSP00000359245.3:n.4774-9G>A
ENST00000370225.3:c.4774-9G>A ENSP00000359245.3:n.4774-9G>A
ENST00000460514.1:n.268-9G>A
ENST00000536513.5:c.1150-9G>A ENSP00000439707.2:n.1150-9G>A
NM_000350.2:c.4774-9G>A NP_000341.2:n.4774-9G>A
NM_000350.3:c.4774-9G>A MANE Select NP_000341.2:n.4774-9G>A
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