Canonical Allele Identifier: CA418824472

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94495075T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029519T>G , CM000663.2:g.94029519T>G	GRCh38
NC_000001.10:g.94495075T>G , CM000663.1:g.94495075T>G	GRCh37
NC_000001.9:g.94267663T>G	NCBI36
NG_009073.1:g.96631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4465A>C MANE Select	ENSP00000359245.3:p.Arg1489=
ENST00000370225.3:c.4465A>C	ENSP00000359245.3:p.Arg1489=
ENST00000536513.5:c.841A>C	ENSP00000439707.2:p.Arg281=
NM_000350.2:c.4465A>C	NP_000341.2:p.Arg1489=
NM_000350.3:c.4465A>C MANE Select	NP_000341.2:p.Arg1489=