Canonical Allele Identifier: CA227272

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99344
• ClinVar RCV Id: RCV000085697 ; RCV000408469 ; RCV002490743
• dbSNP Id: rs61750564
• ExAC: 1:94485247 C / T
• gnomAD v2: 1-94485247-C-T
• gnomAD v3: 1-94019691-C-T
• gnomAD v4: 1-94019691-C-T
• MyVariant Identifiers: chr1:g.94485247C>T (hg19) ; chr1:g.94019691C>T (hg38)
• PubMed: PMID:9973280 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94019691C>T , CM000663.2:g.94019691C>T	GRCh38
NC_000001.10:g.94485247C>T , CM000663.1:g.94485247C>T	GRCh37
NC_000001.9:g.94257835C>T	NCBI36
NG_009073.1:g.106459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5087G>A MANE Select	ENSP00000359245.3:p.Ser1696Asn
ENST00000370225.3:c.5087G>A	ENSP00000359245.3:p.Ser1696Asn
ENST00000460514.1:n.581G>A
ENST00000470771.1:n.197G>A
ENST00000536513.5:c.1463G>A	ENSP00000439707.2:p.Ser488Asn
NM_000350.2:c.5087G>A	NP_000341.2:p.Ser1696Asn
NM_000350.3:c.5087G>A MANE Select	NP_000341.2:p.Ser1696Asn