Canonical Allele Identifier: CA2354681
Gene: CCR5 HGNC NCBI
CCR5AS HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.46373467T>A
GRCh37 chr3:g.46414958T>A
Revel Score:
ENST00000343801 0.063
ENST00000400886 0.063
ENST00000292303 (MANE Select) 0.063
ENST00000445772 0.063
gnomAD v2:
3:46414958 T / A
gnomAD v3:
3:46373467 T / A
gnomAD v4:
chr3-46373467-T-A
Joint Max Group AF 0.00003433 (AMR)
Exomes Max Group AF 0.00003217 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373467T>A , CM000665.2:g.46373467T>A GRCh38
NC_000003.11:g.46414958T>A , CM000665.1:g.46414958T>A GRCh37
NC_000003.10:g.46389962T>A NCBI36
NG_012637.1:g.8326T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.565T>A (CCR5) MANE Select ENSP00000292303.4:p.Phe189Ile
ENST00000292303.4:c.565T>A (CCR5) ENSP00000292303.4:p.Phe189Ile
ENST00000445772.1:c.565T>A (CCR5) ENSP00000404881.1:p.Phe189Ile
NM_000579.3:c.565T>A (CCR5) NP_000570.1:p.Phe189Ile
NM_001100168.1:c.565T>A (CCR5) NP_001093638.1:p.Phe189Ile
NR_125406.1:n.392-2050A>T (CCR5AS)
NM_000579.4:c.565T>A (CCR5) NP_000570.1:p.Phe189Ile
NM_001100168.2:c.565T>A (CCR5) NP_001093638.1:p.Phe189Ile
NM_001394783.1:c.565T>A (CCR5) MANE Select NP_001381712.1:p.Phe189Ile
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