Canonical Allele Identifier: CA119358
Gene: CCR5 HGNC NCBI
CCR5AS HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.46373906C>T
GRCh37 chr3:g.46415397C>T
Revel Score:
ENST00000343801 0.025
ENST00000400886 0.025
ENST00000292303 (MANE Select) 0.025
ENST00000445772 0.025
gnomAD v2:
3:46415397 C / T
gnomAD v3:
3:46373906 C / T
gnomAD v4:
chr3-46373906-C-T
Joint Max Group AF 0.03603471 (AFR)
Genomes Max Group AF 0.03459319 (AFR)
Exomes Max Group AF 0.03677462 (AFR)
ClinVar RCV:
RCV000008669
ClinVar Variation:
8187
dbSNP:
1800944
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373906C>T , CM000665.2:g.46373906C>T GRCh38
NC_000003.11:g.46415397C>T , CM000665.1:g.46415397C>T GRCh37
NC_000003.10:g.46390401C>T NCBI36
NG_012637.1:g.8765C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.1004C>T (CCR5) MANE Select ENSP00000292303.4:p.Ala335Val
ENST00000292303.4:c.1004C>T (CCR5) ENSP00000292303.4:p.Ala335Val
ENST00000445772.1:c.1004C>T (CCR5) ENSP00000404881.1:p.Ala335Val
NM_000579.3:c.1004C>T (CCR5) NP_000570.1:p.Ala335Val
NM_001100168.1:c.1004C>T (CCR5) NP_001093638.1:p.Ala335Val
NR_125406.1:n.392-2489G>A (CCR5AS)
NM_000579.4:c.1004C>T (CCR5) NP_000570.1:p.Ala335Val
NM_001100168.2:c.1004C>T (CCR5) NP_001093638.1:p.Ala335Val
NM_001394783.1:c.1004C>T (CCR5) MANE Select NP_001381712.1:p.Ala335Val
Search 100 bp 5'
Search 100 bp 3'