Canonical Allele Identifier: CA418821685

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94486843A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021287A>G , CM000663.2:g.94021287A>G	GRCh38
NC_000001.10:g.94486843A>G , CM000663.1:g.94486843A>G	GRCh37
NC_000001.9:g.94259431A>G	NCBI36
NG_009073.1:g.104863T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4971T>C MANE Select	ENSP00000359245.3:p.Ile1657=
ENST00000370225.3:c.4971T>C	ENSP00000359245.3:p.Ile1657=
ENST00000460514.1:n.465T>C
ENST00000470771.1:n.81T>C
ENST00000536513.5:c.1347T>C	ENSP00000439707.2:p.Ile449=
NM_000350.2:c.4971T>C	NP_000341.2:p.Ile1657=
NM_000350.3:c.4971T>C MANE Select	NP_000341.2:p.Ile1657=