Canonical Allele Identifier: CA341286719
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031786G>T , CM000663.2:g.94031786G>T GRCh38
NC_000001.10:g.94497342G>T , CM000663.1:g.94497342G>T GRCh37
NC_000001.9:g.94269930G>T NCBI36
NG_009073.1:g.94364C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4120C>A MANE Select ENSP00000359245.3:p.Leu1374Met
ENST00000370225.3:c.4120C>A ENSP00000359245.3:p.Leu1374Met
ENST00000536513.5:c.496C>A ENSP00000439707.2:p.Leu166Met
NM_000350.2:c.4120C>A NP_000341.2:p.Leu1374Met
NM_000350.3:c.4120C>A MANE Select NP_000341.2:p.Leu1374Met