Canonical Allele Identifier: CA341286495
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031114G>A , CM000663.2:g.94031114G>A GRCh38
NC_000001.10:g.94496670G>A , CM000663.1:g.94496670G>A GRCh37
NC_000001.9:g.94269258G>A NCBI36
NG_009073.1:g.95036C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4135C>T MANE Select ENSP00000359245.3:p.Leu1379Phe
ENST00000370225.3:c.4135C>T ENSP00000359245.3:p.Leu1379Phe
ENST00000536513.5:c.511C>T ENSP00000439707.2:p.Leu171Phe
NM_000350.2:c.4135C>T NP_000341.2:p.Leu1379Phe
NM_000350.3:c.4135C>T MANE Select NP_000341.2:p.Leu1379Phe