Canonical Allele Identifier: CA227225

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99310
• ClinVar RCV Id: RCV000085663 ; RCV000504910 ; RCV000622993 ; RCV000764207 ; RCV000626667 ; RCV001100155
• dbSNP Id: rs62646863
• ExAC: 1:94568675 T / C
• gnomAD v2: 1-94568675-T-C
• gnomAD v3: 1-94103119-T-C
• gnomAD v4: 1-94103119-T-C
• MyVariant Identifiers: chr1:g.94568675T>C (hg19) ; chr1:g.94103119T>C (hg38)
• PubMed: PMID:8002831 ; PMID:9054934 ; PMID:9781034 ; PMID:9973280 ; PMID:10090887 ; PMID:10634594 ; PMID:11919200 ; PMID:12037008 ; PMID:12796258 ; PMID:14709597 ; PMID:16546111 ; PMID:18977788 ; PMID:19074458 ; PMID:19217903 ; PMID:19230850 ; PMID:23891399 ; PMID:27491360 ; PMID:28041643 ; PMID:28446513

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94103119T>C , CM000663.2:g.94103119T>C	GRCh38
NC_000001.10:g.94568675T>C , CM000663.1:g.94568675T>C	GRCh37
NC_000001.9:g.94341263T>C	NCBI36
NG_009073.1:g.23031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.466A>G MANE Select	ENSP00000359245.3:p.Ile156Val
ENST00000649773.1:c.466A>G	ENSP00000496882.1:p.Ile156Val
ENST00000370225.3:c.466A>G	ENSP00000359245.3:p.Ile156Val
NM_000350.2:c.466A>G	NP_000341.2:p.Ile156Val
NM_000350.3:c.466A>G MANE Select	NP_000341.2:p.Ile156Val