Canonical Allele Identifier: CA418825000

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94496073T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030517T>C , CM000663.2:g.94030517T>C	GRCh38
NC_000001.10:g.94496073T>C , CM000663.1:g.94496073T>C	GRCh37
NC_000001.9:g.94268661T>C	NCBI36
NG_009073.1:g.95633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4263A>G MANE Select	ENSP00000359245.3:p.Glu1421=
ENST00000370225.3:c.4263A>G	ENSP00000359245.3:p.Glu1421=
ENST00000536513.5:c.639A>G	ENSP00000439707.2:p.Glu213=
NM_000350.2:c.4263A>G	NP_000341.2:p.Glu1421=
NM_000350.3:c.4263A>G MANE Select	NP_000341.2:p.Glu1421=