Canonical Allele Identifier: CA418821783

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94487199A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021643A>T , CM000663.2:g.94021643A>T	GRCh38
NC_000001.10:g.94487199A>T , CM000663.1:g.94487199A>T	GRCh37
NC_000001.9:g.94259787A>T	NCBI36
NG_009073.1:g.104507T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4845T>A MANE Select	ENSP00000359245.3:p.Ile1615=
ENST00000370225.3:c.4845T>A	ENSP00000359245.3:p.Ile1615=
ENST00000460514.1:n.339T>A
ENST00000536513.5:c.1221T>A	ENSP00000439707.2:p.Ile407=
NM_000350.2:c.4845T>A	NP_000341.2:p.Ile1615=
NM_000350.3:c.4845T>A MANE Select	NP_000341.2:p.Ile1615=