Canonical Allele Identifier: CA347415

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 212727
• ClinVar RCV Id: RCV000194199 ; RCV000408459 ; RCV001071977 ; RCV001075570 ; RCV002485297
• dbSNP Id: rs200692438
• ExAC: 1:94526289 A / C
• gnomAD v2: 1-94526289-A-C
• gnomAD v3: 1-94060733-A-C
• gnomAD v4: 1-94060733-A-C
• MyVariant Identifiers: chr1:g.94526289A>C (hg19) ; chr1:g.94060733A>C (hg38)
• PubMed: PMID:17296903 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060733A>C , CM000663.2:g.94060733A>C	GRCh38
NC_000001.10:g.94526289A>C , CM000663.1:g.94526289A>C	GRCh37
NC_000001.9:g.94298877A>C	NCBI36
NG_009073.1:g.65417T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1964T>G MANE Select	ENSP00000359245.3:p.Phe655Cys
ENST00000649773.1:c.1964T>G	ENSP00000496882.1:p.Phe655Cys
ENST00000370225.3:c.1964T>G	ENSP00000359245.3:p.Phe655Cys
ENST00000472033.1:n.84T>G
ENST00000536513.5:c.-65+2441T>G	ENSP00000439707.2:n.-65+2441T>G
NM_000350.2:c.1964T>G	NP_000341.2:p.Phe655Cys
NM_000350.3:c.1964T>G MANE Select	NP_000341.2:p.Phe655Cys