Canonical Allele Identifier: CA113789
Gene: ACKR1 HGNC NCBI
ClinVar RCV:
RCV000000009
ClinVar Variation:
18396
dbSNP:
34599082
gnomAD v2:
1:159175494 C / T
gnomAD v3:
1:159205704 C / T
gnomAD v4:
chr1-159205704-C-T
Joint Max Group AF 0.01406343 (NFE)
Genomes Max Group AF 0.01546082 (NFE)
Exomes Max Group AF 0.01393615 (NFE)
MyVariant.info:
GRCh38 chr1:g.159205704C>T
GRCh37 chr1:g.159175494C>T
Revel Score:
ENST00000368122 (MANE Select) 0.100
ENST00000537147 0.100
ENST00000359381 0.100
ENST00000435307 0.100
ENST00000368121 0.100
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159205704C>T , CM000663.2:g.159205704C>T GRCh38
NC_000001.10:g.159175494C>T , CM000663.1:g.159175494C>T GRCh37
NC_000001.9:g.157442118C>T NCBI36
NG_011626.1:g.5985C>T
NG_011626.3:g.6692C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368121.6:c.271C>T ENSP00000357103.2:p.Arg91Cys
ENST00000368122.4:c.265C>T MANE Select ENSP00000357104.1:p.Arg89Cys
ENST00000435307.2:n.446C>T
ENST00000368121.3:c.271C>T ENSP00000357103.2:p.Arg91Cys
ENST00000368122.2:c.265C>T ENSP00000357104.1:p.Arg89Cys
ENST00000435307.1:c.271C>T ENSP00000398406.1:p.Arg91Cys
ENST00000537147.5:c.265C>T ENSP00000441985.1:p.Arg89Cys
NM_001122951.2:c.271C>T NP_001116423.1:p.Arg91Cys
NM_002036.3:c.265C>T NP_002027.2:p.Arg89Cys
NM_002036.4:c.265C>T MANE Select NP_002027.2:p.Arg89Cys
NM_001122951.3:c.271C>T NP_001116423.1:p.Arg91Cys
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