Canonical Allele Identifier: CA220687

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 92870
• ClinVar RCV Id: RCV000008366 ; RCV000078669 ; RCV000177965 ; RCV000210325 ; RCV000210327 ; RCV000504857 ; RCV000678511 ; RCV000763440 ; RCV000787510 ; RCV000787771 ; RCV001000430 ; RCV001542559
• dbSNP Id: rs1800728
• ExAC: 1:94476951 A / G
• gnomAD v2: 1-94476951-A-G
• gnomAD v3: 1-94011395-A-G
• gnomAD v4: 1-94011395-A-G
• MyVariant Identifiers: chr1:g.94476951A>G (hg19) ; chr1:g.94011395A>G (hg38)
• PubMed: PMID:10958763 ; PMID:15614537 ; PMID:18285826 ; PMID:19074458 ; PMID:20696155 ; PMID:22264887 ; PMID:22328824 ; PMID:23591405 ; PMID:23695285 ; PMID:23891399 ; PMID:24713488 ; PMID:25082885 ; PMID:25097241 ; PMID:25525159 ; PMID:26261413 ; PMID:26872967 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011395A>G , CM000663.2:g.94011395A>G	GRCh38
NC_000001.10:g.94476951A>G , CM000663.1:g.94476951A>G	GRCh37
NC_000001.9:g.94249539A>G	NCBI36
NG_009073.1:g.114755T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5461-10T>C MANE Select	ENSP00000359245.3:n.5461-10T>C
ENST00000370225.3:c.5461-10T>C	ENSP00000359245.3:n.5461-10T>C
ENST00000536513.5:c.1837-10T>C	ENSP00000439707.2:n.1837-10T>C
NM_000350.2:c.5461-10T>C	NP_000341.2:n.5461-10T>C
NM_000350.3:c.5461-10T>C MANE Select	NP_000341.2:n.5461-10T>C