Canonical Allele Identifier: CA226892

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99052
• ClinVar RCV Id: RCV000085395 ; RCV000622340 ; RCV001002844 ; RCV001074274 ; RCV001102041 ; RCV001808322 ; RCV003128228 ; RCV003317086
• dbSNP Id: rs1800548
• ExAC: 1:94543389 C / T
• gnomAD v2: 1-94543389-C-T
• gnomAD v3: 1-94077833-C-T
• gnomAD v4: 1-94077833-C-T
• MyVariant Identifiers: chr1:g.94543389C>T (hg19) ; chr1:g.94077833C>T (hg38)
• PubMed: PMID:8002831 ; PMID:9054934 ; PMID:9781034 ; PMID:9973280 ; PMID:10090887 ; PMID:11919200 ; PMID:12037008 ; PMID:12796258 ; PMID:14709597 ; PMID:16546111 ; PMID:18977788 ; PMID:19074458 ; PMID:19217903 ; PMID:19230850 ; PMID:23891399 ; PMID:27491360 ; PMID:28446513

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94077833C>T , CM000663.2:g.94077833C>T	GRCh38
NC_000001.10:g.94543389C>T , CM000663.1:g.94543389C>T	GRCh37
NC_000001.9:g.94315977C>T	NCBI36
NG_009073.1:g.48317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1411G>A MANE Select	ENSP00000359245.3:p.Glu471Lys
ENST00000649773.1:c.1411G>A	ENSP00000496882.1:p.Glu471Lys
ENST00000370225.3:c.1411G>A	ENSP00000359245.3:p.Glu471Lys
NM_000350.2:c.1411G>A	NP_000341.2:p.Glu471Lys
NM_000350.3:c.1411G>A MANE Select	NP_000341.2:p.Glu471Lys