Canonical Allele Identifier: CA352471250
Gene: CCR5 HGNC NCBI
CCR5AS HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.46373365G>C
GRCh37 chr3:g.46414856G>C
Revel Score:
ENST00000343801 0.110
ENST00000400886 0.110
ENST00000292303 (MANE Select) 0.110
ENST00000445772 0.110
gnomAD v4:
chr3-46373365-G-C
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373365G>C , CM000665.2:g.46373365G>C GRCh38
NC_000003.11:g.46414856G>C , CM000665.1:g.46414856G>C GRCh37
NC_000003.10:g.46389860G>C NCBI36
NG_012637.1:g.8224G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.463G>C (CCR5) MANE Select ENSP00000292303.4:p.Val155Leu
ENST00000292303.4:c.463G>C (CCR5) ENSP00000292303.4:p.Val155Leu
ENST00000445772.1:c.463G>C (CCR5) ENSP00000404881.1:p.Val155Leu
NM_000579.3:c.463G>C (CCR5) NP_000570.1:p.Val155Leu
NM_001100168.1:c.463G>C (CCR5) NP_001093638.1:p.Val155Leu
NR_125406.1:n.392-1948C>G (CCR5AS)
NM_000579.4:c.463G>C (CCR5) NP_000570.1:p.Val155Leu
NM_001100168.2:c.463G>C (CCR5) NP_001093638.1:p.Val155Leu
NM_001394783.1:c.463G>C (CCR5) MANE Select NP_001381712.1:p.Val155Leu
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