Canonical Allele Identifier: CA2580063347
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151887
ClinVar RCV Id: RCV003079006
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046914C>T , CM000663.2:g.94046914C>T GRCh38
NC_000001.10:g.94512470C>T , CM000663.1:g.94512470C>T GRCh37
NC_000001.9:g.94285058C>T NCBI36
NG_009073.1:g.79236G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+5G>A MANE Select ENSP00000359245.3:n.2918+5G>A
ENST00000649773.1:c.2696+5G>A ENSP00000496882.1:n.2696+5G>A
ENST00000370225.3:c.2918+5G>A ENSP00000359245.3:n.2918+5G>A
ENST00000536513.5:c.-64-6825G>A ENSP00000439707.2:n.-64-6825G>A
NM_000350.2:c.2918+5G>A NP_000341.2:n.2918+5G>A
NM_000350.3:c.2918+5G>A MANE Select NP_000341.2:n.2918+5G>A
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