Canonical Allele Identifier: CA341285090

Gene: ABCA4

Linked Data

• dbSNP Id: rs758653947
• MyVariant Identifiers: chr1:g.94495110T>C (hg19) ; chr1:g.94029554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029554T>C , CM000663.2:g.94029554T>C	GRCh38
NC_000001.10:g.94495110T>C , CM000663.1:g.94495110T>C	GRCh37
NC_000001.9:g.94267698T>C	NCBI36
NG_009073.1:g.96596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4430A>G MANE Select	ENSP00000359245.3:p.Gln1477Arg
ENST00000370225.3:c.4430A>G	ENSP00000359245.3:p.Gln1477Arg
ENST00000536513.5:c.806A>G	ENSP00000439707.2:p.Gln269Arg
NM_000350.2:c.4430A>G	NP_000341.2:p.Gln1477Arg
NM_000350.3:c.4430A>G MANE Select	NP_000341.2:p.Gln1477Arg