Canonical Allele Identifier: CA1181402704
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659424779
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007572T>G , CM000663.2:g.94007572T>G GRCh38
NC_000001.10:g.94473128T>G , CM000663.1:g.94473128T>G GRCh37
NC_000001.9:g.94245716T>G NCBI36
NG_009073.1:g.118578A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+62A>C MANE Select ENSP00000359245.3:n.6005+62A>C
ENST00000370225.3:c.6005+62A>C ENSP00000359245.3:n.6005+62A>C
ENST00000465352.1:n.421+62A>C
ENST00000484388.1:n.119+62A>C
ENST00000536513.5:c.2381+62A>C ENSP00000439707.2:n.2381+62A>C
NM_000350.2:c.6005+62A>C NP_000341.2:n.6005+62A>C
NM_000350.3:c.6005+62A>C MANE Select NP_000341.2:n.6005+62A>C
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