Canonical Allele Identifier: CA418821664

Gene: ABCA4

Linked Data

• dbSNP Id: rs1293572527
• MyVariant Identifiers: chr1:g.94486828G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021272G>A , CM000663.2:g.94021272G>A	GRCh38
NC_000001.10:g.94486828G>A , CM000663.1:g.94486828G>A	GRCh37
NC_000001.9:g.94259416G>A	NCBI36
NG_009073.1:g.104878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4986C>T MANE Select	ENSP00000359245.3:p.Asn1662=
ENST00000370225.3:c.4986C>T	ENSP00000359245.3:p.Asn1662=
ENST00000460514.1:n.480C>T
ENST00000470771.1:n.96C>T
ENST00000536513.5:c.1362C>T	ENSP00000439707.2:p.Asn454=
NM_000350.2:c.4986C>T	NP_000341.2:p.Asn1662=
NM_000350.3:c.4986C>T MANE Select	NP_000341.2:p.Asn1662=