Canonical Allele Identifier: CA119360
Gene: CCR5 HGNC NCBI
CCR5AS HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.46373205T>A
GRCh37 chr3:g.46414696T>A
gnomAD v2:
3:46414696 T / A
gnomAD v3:
3:46373205 T / A
gnomAD v4:
chr3-46373205-T-A
Joint Max Group AF 0.00186108 (NFE)
Genomes Max Group AF 0.00118248 (NFE)
Exomes Max Group AF 0.00188959 (NFE)
ClinVar RCV:
RCV000008670
ClinVar Variation:
8188
dbSNP:
1800560
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373205T>A , CM000665.2:g.46373205T>A GRCh38
NC_000003.11:g.46414696T>A , CM000665.1:g.46414696T>A GRCh37
NC_000003.10:g.46389700T>A NCBI36
NG_012637.1:g.8064T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.303T>A (CCR5) MANE Select ENSP00000292303.4:p.Cys101Ter
ENST00000292303.4:c.303T>A (CCR5) ENSP00000292303.4:p.Cys101Ter
ENST00000445772.1:c.303T>A (CCR5) ENSP00000404881.1:p.Cys101Ter
NM_000579.3:c.303T>A (CCR5) NP_000570.1:p.Cys101Ter
NM_001100168.1:c.303T>A (CCR5) NP_001093638.1:p.Cys101Ter
NR_125406.1:n.392-1788A>T (CCR5AS)
NM_000579.4:c.303T>A (CCR5) NP_000570.1:p.Cys101Ter
NM_001100168.2:c.303T>A (CCR5) NP_001093638.1:p.Cys101Ter
NM_001394783.1:c.303T>A (CCR5) MANE Select NP_001381712.1:p.Cys101Ter
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