Canonical Allele Identifier: CA341275491

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94512581A>T (hg19) ; chr1:g.94047025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047025A>T , CM000663.2:g.94047025A>T	GRCh38
NC_000001.10:g.94512581A>T , CM000663.1:g.94512581A>T	GRCh37
NC_000001.9:g.94285169A>T	NCBI36
NG_009073.1:g.79125T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2812T>A MANE Select	ENSP00000359245.3:p.Phe938Ile
ENST00000649773.1:c.2590T>A	ENSP00000496882.1:p.Phe864Ile
ENST00000370225.3:c.2812T>A	ENSP00000359245.3:p.Phe938Ile
ENST00000536513.5:c.-64-6936T>A	ENSP00000439707.2:n.-64-6936T>A
NM_000350.2:c.2812T>A	NP_000341.2:p.Phe938Ile
NM_000350.3:c.2812T>A MANE Select	NP_000341.2:p.Phe938Ile