Canonical Allele Identifier: CA341281628

Gene: ABCA4

Linked Data

• COSMIC: COSM4498732
• MyVariant Identifiers: chr1:g.94481338G>A (hg19) ; chr1:g.94015782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94015782G>A , CM000663.2:g.94015782G>A	GRCh38
NC_000001.10:g.94481338G>A , CM000663.1:g.94481338G>A	GRCh37
NC_000001.9:g.94253926G>A	NCBI36
NG_009073.1:g.110368C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.5269C>T MANE Select	ENSP00000359245.3:p.Pro1757Ser
ENST00000370225.3:c.5269C>T	ENSP00000359245.3:p.Pro1757Ser
ENST00000536513.5:c.1645C>T	ENSP00000439707.2:p.Pro549Ser
NM_000350.2:c.5269C>T	NP_000341.2:p.Pro1757Ser
NM_000350.3:c.5269C>T MANE Select	NP_000341.2:p.Pro1757Ser