Canonical Allele Identifier: CA352473341

Linked Data

dbSNP Id: rs1168017663
gnomAD v2: 3-46415339-A-G
gnomAD v4: 3-46373848-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373848A>G , CM000665.2:g.46373848A>G GRCh38
NC_000003.11:g.46415339A>G , CM000665.1:g.46415339A>G GRCh37
NC_000003.10:g.46390343A>G NCBI36
NG_012637.1:g.8707A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.946A>G (CCR5) MANE Select ENSP00000292303.4:p.Ile316Val
ENST00000292303.4:c.946A>G (CCR5) ENSP00000292303.4:p.Ile316Val
ENST00000445772.1:c.946A>G (CCR5) ENSP00000404881.1:p.Ile316Val
NM_000579.3:c.946A>G (CCR5) NP_000570.1:p.Ile316Val
NM_001100168.1:c.946A>G (CCR5) NP_001093638.1:p.Ile316Val
NR_125406.1:n.392-2431T>C (CCR5AS)
NM_000579.4:c.946A>G (CCR5) NP_000570.1:p.Ile316Val
NM_001100168.2:c.946A>G (CCR5) NP_001093638.1:p.Ile316Val
NM_001394783.1:c.946A>G (CCR5) MANE Select NP_001381712.1:p.Ile316Val