Canonical Allele Identifier: CA227022

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99153
• ClinVar RCV Id: RCV000085500 ; RCV000260644 ; RCV000280747 ; RCV000408596 ; RCV000375069 ; RCV000315748 ; RCV001096530 ; RCV001197697
• dbSNP Id: rs61749440
• ExAC: 1:94514477 G / A
• gnomAD v2: 1-94514477-G-A
• gnomAD v3: 1-94048921-G-A
• gnomAD v4: 1-94048921-G-A
• MyVariant Identifiers: chr1:g.94514477G>A (hg19) ; chr1:g.94048921G>A (hg38)
• PubMed: PMID:10711710 ; PMID:22264887 ; PMID:22995991 ; PMID:23891399 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94048921G>A , CM000663.2:g.94048921G>A	GRCh38
NC_000001.10:g.94514477G>A , CM000663.1:g.94514477G>A	GRCh37
NC_000001.9:g.94287065G>A	NCBI36
NG_009073.1:g.77229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2690C>T MANE Select	ENSP00000359245.3:p.Thr897Ile
ENST00000649773.1:c.2468C>T	ENSP00000496882.1:p.Thr823Ile
ENST00000370225.3:c.2690C>T	ENSP00000359245.3:p.Thr897Ile
ENST00000536513.5:c.-64-8832C>T	ENSP00000439707.2:n.-64-8832C>T
NM_000350.2:c.2690C>T	NP_000341.2:p.Thr897Ile
NM_000350.3:c.2690C>T MANE Select	NP_000341.2:p.Thr897Ile