Canonical Allele Identifier: CA119130

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 7885
• ClinVar RCV Id: RCV000008336 ; RCV000085827 ; RCV000243384 ; RCV000268191 ; RCV000323169 ; RCV000359301 ; RCV000362825 ; RCV001099675
• dbSNP Id: rs1800555
• ExAC: 1:94463617 C / T
• gnomAD v2: 1-94463617-C-T
• gnomAD v3: 1-93998061-C-T
• gnomAD v4: 1-93998061-C-T
• MyVariant Identifiers: chr1:g.94463617C>T (hg19) ; chr1:g.93998061C>T (hg38)
• PubMed: PMID:9054934 ; PMID:9295268 ; PMID:10880298 ; PMID:11346402

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998061C>T , CM000663.2:g.93998061C>T	GRCh38
NC_000001.10:g.94463617C>T , CM000663.1:g.94463617C>T	GRCh37
NC_000001.9:g.94236205C>T	NCBI36
NG_009073.1:g.128089G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.6529G>A MANE Select	ENSP00000359245.3:p.Asp2177Asn
ENST00000370225.3:c.6529G>A	ENSP00000359245.3:p.Asp2177Asn
ENST00000536513.5:c.2905G>A	ENSP00000439707.2:p.Asp969Asn
NM_000350.2:c.6529G>A	NP_000341.2:p.Asp2177Asn
NM_000350.3:c.6529G>A MANE Select	NP_000341.2:p.Asp2177Asn