Canonical Allele Identifier: CA26843511

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 438100
• ClinVar RCV Id: RCV000504847 ; RCV000504651 ; RCV000787507 ; RCV000787508 ; RCV001388591 ; RCV001542560 ; RCV003324531
• dbSNP Id: rs778234759
• gnomAD v2: 1-94484001-C-T
• gnomAD v3: 1-94018445-C-T
• gnomAD v4: 1-94018445-C-T
• MyVariant Identifiers: chr1:g.94484001C>T (hg19) ; chr1:g.94018445C>T (hg38)
• PubMed: PMID:23918662 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94018445C>T , CM000663.2:g.94018445C>T	GRCh38
NC_000001.10:g.94484001C>T , CM000663.1:g.94484001C>T	GRCh37
NC_000001.9:g.94256589C>T	NCBI36
NG_009073.1:g.107705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5196+1137G>A MANE Select	ENSP00000359245.3:n.5196+1137G>A
ENST00000370225.3:c.5196+1137G>A	ENSP00000359245.3:n.5196+1137G>A
ENST00000536513.5:c.1572+1137G>A	ENSP00000439707.2:n.1572+1137G>A
NM_000350.2:c.5196+1137G>A	NP_000341.2:n.5196+1137G>A
NM_000350.3:c.5196+1137G>A MANE Select	NP_000341.2:n.5196+1137G>A