Canonical Allele Identifier: CA2354684
Gene: CCR5 HGNC NCBI
CCR5AS HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.46373472G>T
GRCh37 chr3:g.46414963G>T
Revel Score:
ENST00000343801 0.428
ENST00000400886 0.428
ENST00000292303 (MANE Select) 0.428
ENST00000445772 0.428
gnomAD v2:
3:46414963 G / T
gnomAD v3:
3:46373472 G / T
gnomAD v4:
chr3-46373472-G-T
Joint Max Group AF 0.00007847 (SAS)
Exomes Max Group AF 0.0000736 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373472G>T , CM000665.2:g.46373472G>T GRCh38
NC_000003.11:g.46414963G>T , CM000665.1:g.46414963G>T GRCh37
NC_000003.10:g.46389967G>T NCBI36
NG_012637.1:g.8331G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.570G>T (CCR5) MANE Select ENSP00000292303.4:p.Trp190Cys
ENST00000292303.4:c.570G>T (CCR5) ENSP00000292303.4:p.Trp190Cys
ENST00000445772.1:c.570G>T (CCR5) ENSP00000404881.1:p.Trp190Cys
NM_000579.3:c.570G>T (CCR5) NP_000570.1:p.Trp190Cys
NM_001100168.1:c.570G>T (CCR5) NP_001093638.1:p.Trp190Cys
NR_125406.1:n.392-2055C>A (CCR5AS)
NM_000579.4:c.570G>T (CCR5) NP_000570.1:p.Trp190Cys
NM_001100168.2:c.570G>T (CCR5) NP_001093638.1:p.Trp190Cys
NM_001394783.1:c.570G>T (CCR5) MANE Select NP_001381712.1:p.Trp190Cys
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