Canonical Allele Identifier: CA2354777

Linked Data

ClinVar Variation Id: 3140092
ClinVar RCV Id: RCV004432981
dbSNP Id: rs375916464
gnomAD v2: 3-46415424-G-A
gnomAD v3: 3-46373933-G-A
gnomAD v4: 3-46373933-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373933G>A , CM000665.2:g.46373933G>A GRCh38
NC_000003.11:g.46415424G>A , CM000665.1:g.46415424G>A GRCh37
NC_000003.10:g.46390428G>A NCBI36
NG_012637.1:g.8792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.1031G>A (CCR5) MANE Select ENSP00000292303.4:p.Gly344Glu
ENST00000292303.4:c.1031G>A (CCR5) ENSP00000292303.4:p.Gly344Glu
ENST00000445772.1:c.1031G>A (CCR5) ENSP00000404881.1:p.Gly344Glu
NM_000579.3:c.1031G>A (CCR5) NP_000570.1:p.Gly344Glu
NM_001100168.1:c.1031G>A (CCR5) NP_001093638.1:p.Gly344Glu
NR_125406.1:n.392-2516C>T (CCR5AS)
NM_000579.4:c.1031G>A (CCR5) NP_000570.1:p.Gly344Glu
NM_001100168.2:c.1031G>A (CCR5) NP_001093638.1:p.Gly344Glu
NM_001394783.1:c.1031G>A (CCR5) MANE Select NP_001381712.1:p.Gly344Glu