Canonical Allele Identifier: CA341285854

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94496053G>C (hg19) ; chr1:g.94030497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030497G>C , CM000663.2:g.94030497G>C	GRCh38
NC_000001.10:g.94496053G>C , CM000663.1:g.94496053G>C	GRCh37
NC_000001.9:g.94268641G>C	NCBI36
NG_009073.1:g.95653C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4283C>G MANE Select	ENSP00000359245.3:p.Thr1428Arg
ENST00000370225.3:c.4283C>G	ENSP00000359245.3:p.Thr1428Arg
ENST00000536513.5:c.659C>G	ENSP00000439707.2:p.Thr220Arg
NM_000350.2:c.4283C>G	NP_000341.2:p.Thr1428Arg
NM_000350.3:c.4283C>G MANE Select	NP_000341.2:p.Thr1428Arg