Canonical Allele Identifier: CA341275335
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046945G>T , CM000663.2:g.94046945G>T GRCh38
NC_000001.10:g.94512501G>T , CM000663.1:g.94512501G>T GRCh37
NC_000001.9:g.94285089G>T NCBI36
NG_009073.1:g.79205C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2892C>A MANE Select ENSP00000359245.3:p.His964Gln
ENST00000649773.1:c.2670C>A ENSP00000496882.1:p.His890Gln
ENST00000370225.3:c.2892C>A ENSP00000359245.3:p.His964Gln
ENST00000536513.5:c.-64-6856C>A ENSP00000439707.2:n.-64-6856C>A
NM_000350.2:c.2892C>A NP_000341.2:p.His964Gln
NM_000350.3:c.2892C>A MANE Select NP_000341.2:p.His964Gln