Canonical Allele Identifier: CA418824993

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94496061C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030505C>T , CM000663.2:g.94030505C>T	GRCh38
NC_000001.10:g.94496061C>T , CM000663.1:g.94496061C>T	GRCh37
NC_000001.9:g.94268649C>T	NCBI36
NG_009073.1:g.95645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4275G>A MANE Select	ENSP00000359245.3:p.Glu1425=
ENST00000370225.3:c.4275G>A	ENSP00000359245.3:p.Glu1425=
ENST00000536513.5:c.651G>A	ENSP00000439707.2:p.Glu217=
NM_000350.2:c.4275G>A	NP_000341.2:p.Glu1425=
NM_000350.3:c.4275G>A MANE Select	NP_000341.2:p.Glu1425=