Canonical Allele Identifier: CA10680519

Gene: ABCA4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94087882C>T , CM000663.2:g.94087882C>T	GRCh38
NC_000001.10:g.94553438C>T , CM000663.1:g.94553438C>T	GRCh37
NC_000001.9:g.94326026C>T	NCBI36
NG_009073.1:g.38268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.769-4441G>A MANE Select	ENSP00000359245.3:n.769-4441G>A
ENST00000649773.1:c.769-4441G>A	ENSP00000496882.1:n.769-4441G>A
ENST00000370225.3:c.769-4441G>A	ENSP00000359245.3:n.769-4441G>A
NM_000350.2:c.769-4441G>A	NP_000341.2:n.769-4441G>A
NM_000350.3:c.769-4441G>A MANE Select	NP_000341.2:n.769-4441G>A