Canonical Allele Identifier: CA956786
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866026
ClinVar RCV Id: RCV001073721 RCV001097880 RCV001366536
dbSNP Id: rs202223056
ExAC: 1:94461675 C / T
gnomAD v2: 1-94461675-C-T
gnomAD v3: 1-93996119-C-T
gnomAD v4: 1-93996119-C-T
MyVariant Identifiers: chr1:g.94461675C>T (hg19) chr1:g.93996119C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996119C>T , CM000663.2:g.93996119C>T GRCh38
NC_000001.10:g.94461675C>T , CM000663.1:g.94461675C>T GRCh37
NC_000001.9:g.94234263C>T NCBI36
NG_009073.1:g.130031G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6806G>A MANE Select ENSP00000359245.3:p.Arg2269Gln
ENST00000370225.3:c.6806G>A ENSP00000359245.3:p.Arg2269Gln
ENST00000536513.5:c.3182G>A ENSP00000439707.2:p.Arg1061Gln
NM_000350.2:c.6806G>A NP_000341.2:p.Arg2269Gln
NM_000350.3:c.6806G>A MANE Select NP_000341.2:p.Arg2269Gln
Search 100 bp 5'
Search 100 bp 3'