Canonical Allele Identifier: CA341286715
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031785A>C , CM000663.2:g.94031785A>C GRCh38
NC_000001.10:g.94497341A>C , CM000663.1:g.94497341A>C GRCh37
NC_000001.9:g.94269929A>C NCBI36
NG_009073.1:g.94365T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4121T>G MANE Select ENSP00000359245.3:p.Leu1374Arg
ENST00000370225.3:c.4121T>G ENSP00000359245.3:p.Leu1374Arg
ENST00000536513.5:c.497T>G ENSP00000439707.2:p.Leu166Arg
NM_000350.2:c.4121T>G NP_000341.2:p.Leu1374Arg
NM_000350.3:c.4121T>G MANE Select NP_000341.2:p.Leu1374Arg