Canonical Allele Identifier: CA73686019

Linked Data

ClinVar Variation Id: 3140095
ClinVar RCV Id: RCV004432984
dbSNP Id: rs968948935
gnomAD v3: 3-46373882-T-C
gnomAD v4: 3-46373882-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373882T>C , CM000665.2:g.46373882T>C GRCh38
NC_000003.11:g.46415373T>C , CM000665.1:g.46415373T>C GRCh37
NC_000003.10:g.46390377T>C NCBI36
NG_012637.1:g.8741T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.980T>C (CCR5) MANE Select ENSP00000292303.4:p.Phe327Ser
ENST00000292303.4:c.980T>C (CCR5) ENSP00000292303.4:p.Phe327Ser
ENST00000445772.1:c.980T>C (CCR5) ENSP00000404881.1:p.Phe327Ser
NM_000579.3:c.980T>C (CCR5) NP_000570.1:p.Phe327Ser
NM_001100168.1:c.980T>C (CCR5) NP_001093638.1:p.Phe327Ser
NR_125406.1:n.392-2465A>G (CCR5AS)
NM_000579.4:c.980T>C (CCR5) NP_000570.1:p.Phe327Ser
NM_001100168.2:c.980T>C (CCR5) NP_001093638.1:p.Phe327Ser
NM_001394783.1:c.980T>C (CCR5) MANE Select NP_001381712.1:p.Phe327Ser