Canonical Allele Identifier: CA341287001

Gene: ABCA4

Linked Data

• COSMIC: COSM126532
• MyVariant Identifiers: chr1:g.94497396G>A (hg19) ; chr1:g.94031840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031840G>A , CM000663.2:g.94031840G>A	GRCh38
NC_000001.10:g.94497396G>A , CM000663.1:g.94497396G>A	GRCh37
NC_000001.9:g.94269984G>A	NCBI36
NG_009073.1:g.94310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4066C>T MANE Select	ENSP00000359245.3:p.Gln1356Ter
ENST00000370225.3:c.4066C>T	ENSP00000359245.3:p.Gln1356Ter
ENST00000536513.5:c.442C>T	ENSP00000439707.2:p.Gln148Ter
NM_000350.2:c.4066C>T	NP_000341.2:p.Gln1356Ter
NM_000350.3:c.4066C>T MANE Select	NP_000341.2:p.Gln1356Ter