Canonical Allele Identifier: CA2739272681

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 2864394
• ClinVar RCV Id: RCV003702710

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060774G>A , CM000663.2:g.94060774G>A	GRCh38
NC_000001.10:g.94526330G>A , CM000663.1:g.94526330G>A	GRCh37
NC_000001.9:g.94298918G>A	NCBI36
NG_009073.1:g.65376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-15C>T MANE Select	ENSP00000359245.3:n.1938-15C>T
ENST00000649773.1:c.1938-15C>T	ENSP00000496882.1:n.1938-15C>T
ENST00000370225.3:c.1938-15C>T	ENSP00000359245.3:n.1938-15C>T
ENST00000472033.1:n.58-15C>T
ENST00000536513.5:c.-65+2400C>T	ENSP00000439707.2:n.-65+2400C>T
NM_000350.2:c.1938-15C>T	NP_000341.2:n.1938-15C>T
NM_000350.3:c.1938-15C>T MANE Select	NP_000341.2:n.1938-15C>T