Canonical Allele Identifier: CA341275618

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94512643A>T (hg19) ; chr1:g.94047087A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047087A>T , CM000663.2:g.94047087A>T	GRCh38
NC_000001.10:g.94512643A>T , CM000663.1:g.94512643A>T	GRCh37
NC_000001.9:g.94285231A>T	NCBI36
NG_009073.1:g.79063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2750T>A MANE Select	ENSP00000359245.3:p.Phe917Tyr
ENST00000649773.1:c.2528T>A	ENSP00000496882.1:p.Phe843Tyr
ENST00000370225.3:c.2750T>A	ENSP00000359245.3:p.Phe917Tyr
ENST00000536513.5:c.-64-6998T>A	ENSP00000439707.2:n.-64-6998T>A
NM_000350.2:c.2750T>A	NP_000341.2:p.Phe917Tyr
NM_000350.3:c.2750T>A MANE Select	NP_000341.2:p.Phe917Tyr