Canonical Allele Identifier: CA341287395
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031875A>T , CM000663.2:g.94031875A>T GRCh38
NC_000001.10:g.94497431A>T , CM000663.1:g.94497431A>T GRCh37
NC_000001.9:g.94270019A>T NCBI36
NG_009073.1:g.94275T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4031T>A MANE Select ENSP00000359245.3:p.Leu1344His
ENST00000370225.3:c.4031T>A ENSP00000359245.3:p.Leu1344His
ENST00000536513.5:c.407T>A ENSP00000439707.2:p.Leu136His
NM_000350.2:c.4031T>A NP_000341.2:p.Leu1344His
NM_000350.3:c.4031T>A MANE Select NP_000341.2:p.Leu1344His