Canonical Allele Identifier: CA341275376
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046967T>A , CM000663.2:g.94046967T>A GRCh38
NC_000001.10:g.94512523T>A , CM000663.1:g.94512523T>A GRCh37
NC_000001.9:g.94285111T>A NCBI36
NG_009073.1:g.79183A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2870A>T MANE Select ENSP00000359245.3:p.Gln957Leu
ENST00000649773.1:c.2648A>T ENSP00000496882.1:p.Gln883Leu
ENST00000370225.3:c.2870A>T ENSP00000359245.3:p.Gln957Leu
ENST00000536513.5:c.-64-6878A>T ENSP00000439707.2:n.-64-6878A>T
NM_000350.2:c.2870A>T NP_000341.2:p.Gln957Leu
NM_000350.3:c.2870A>T MANE Select NP_000341.2:p.Gln957Leu