Canonical Allele Identifier: CA227425

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99476
• ClinVar RCV Id: RCV000085837 ; RCV000408450 ; RCV000504742 ; RCV001352970 ; RCV004529895
• dbSNP Id: rs61753046
• ExAC: 1:94463488 G / A
• gnomAD v2: 1-94463488-G-A
• gnomAD v3: 1-93997932-G-A
• gnomAD v4: 1-93997932-G-A
• MyVariant Identifiers: chr1:g.94463488G>A (hg19) ; chr1:g.93997932G>A (hg38)
• PubMed: PMID:10958761 ; PMID:22968130 ; PMID:23134348 ; PMID:25525159 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997932G>A , CM000663.2:g.93997932G>A	GRCh38
NC_000001.10:g.94463488G>A , CM000663.1:g.94463488G>A	GRCh37
NC_000001.9:g.94236076G>A	NCBI36
NG_009073.1:g.128218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6658C>T MANE Select	ENSP00000359245.3:p.Gln2220Ter
ENST00000370225.3:c.6658C>T	ENSP00000359245.3:p.Gln2220Ter
ENST00000536513.5:c.3034C>T	ENSP00000439707.2:p.Gln1012Ter
NM_000350.2:c.6658C>T	NP_000341.2:p.Gln2220Ter
NM_000350.3:c.6658C>T MANE Select	NP_000341.2:p.Gln2220Ter