Canonical Allele Identifier: CA227380

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99438
• ClinVar RCV Id: RCV000085797 ; RCV000402409 ; RCV000504630 ; RCV001004998 ; RCV000787519 ; RCV001770079
• dbSNP Id: rs61750645
• gnomAD v2: 1-94467467-G-A
• gnomAD v3: 1-94001911-G-A
• gnomAD v4: 1-94001911-G-A
• MyVariant Identifiers: chr1:g.94467467G>A (hg19) ; chr1:g.94001911G>A (hg38)
• PubMed: PMID:9054934 ; PMID:19217903 ; PMID:23891399 ; PMID:24713488 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001911G>A , CM000663.2:g.94001911G>A	GRCh38
NC_000001.10:g.94467467G>A , CM000663.1:g.94467467G>A	GRCh37
NC_000001.9:g.94240055G>A	NCBI36
NG_009073.1:g.124239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6229C>T MANE Select	ENSP00000359245.3:p.Arg2077Trp
ENST00000370225.3:c.6229C>T	ENSP00000359245.3:p.Arg2077Trp
ENST00000465352.1:n.645C>T
ENST00000536513.5:c.2605C>T	ENSP00000439707.2:p.Arg869Trp
NM_000350.2:c.6229C>T	NP_000341.2:p.Arg2077Trp
NM_000350.3:c.6229C>T MANE Select	NP_000341.2:p.Arg2077Trp