Canonical Allele Identifier: CA957928

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236102
• ClinVar RCV Id: RCV000408467 ; RCV000761669 ; RCV001257844 ; RCV002267731 ; RCV003330593
• dbSNP Id: rs768278935
• ExAC: 1:94506805 C / T
• gnomAD v2: 1-94506805-C-T
• gnomAD v3: 1-94041249-C-T
• gnomAD v4: 1-94041249-C-T
• MyVariant Identifiers: chr1:g.94506805C>T (hg19) ; chr1:g.94041249C>T (hg38)
• PubMed: PMID:24265693 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041249C>T , CM000663.2:g.94041249C>T	GRCh38
NC_000001.10:g.94506805C>T , CM000663.1:g.94506805C>T	GRCh37
NC_000001.9:g.94279393C>T	NCBI36
NG_009073.1:g.84901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3482G>A MANE Select	ENSP00000359245.3:p.Arg1161His
ENST00000370225.3:c.3482G>A	ENSP00000359245.3:p.Arg1161His
ENST00000536513.5:c.-64-1160G>A	ENSP00000439707.2:n.-64-1160G>A
NM_000350.2:c.3482G>A	NP_000341.2:p.Arg1161His
NM_000350.3:c.3482G>A MANE Select	NP_000341.2:p.Arg1161His