Canonical Allele Identifier: CA341281048

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94476859A>T (hg19) ; chr1:g.94011303A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011303A>T , CM000663.2:g.94011303A>T	GRCh38
NC_000001.10:g.94476859A>T , CM000663.1:g.94476859A>T	GRCh37
NC_000001.9:g.94249447A>T	NCBI36
NG_009073.1:g.114847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5543T>A MANE Select	ENSP00000359245.3:p.Leu1848His
ENST00000370225.3:c.5543T>A	ENSP00000359245.3:p.Leu1848His
ENST00000536513.5:c.1919T>A	ENSP00000439707.2:p.Leu640His
NM_000350.2:c.5543T>A	NP_000341.2:p.Leu1848His
NM_000350.3:c.5543T>A MANE Select	NP_000341.2:p.Leu1848His