Canonical Allele Identifier: CA2354761

Linked Data

dbSNP Id: rs372786661
gnomAD v2: 3-46415377-G-C
gnomAD v3: 3-46373886-G-C
gnomAD v4: 3-46373886-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373886G>C , CM000665.2:g.46373886G>C GRCh38
NC_000003.11:g.46415377G>C , CM000665.1:g.46415377G>C GRCh37
NC_000003.10:g.46390381G>C NCBI36
NG_012637.1:g.8745G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.984G>C (CCR5) MANE Select ENSP00000292303.4:p.Gln328His
ENST00000292303.4:c.984G>C (CCR5) ENSP00000292303.4:p.Gln328His
ENST00000445772.1:c.984G>C (CCR5) ENSP00000404881.1:p.Gln328His
NM_000579.3:c.984G>C (CCR5) NP_000570.1:p.Gln328His
NM_001100168.1:c.984G>C (CCR5) NP_001093638.1:p.Gln328His
NR_125406.1:n.392-2469C>G (CCR5AS)
NM_000579.4:c.984G>C (CCR5) NP_000570.1:p.Gln328His
NM_001100168.2:c.984G>C (CCR5) NP_001093638.1:p.Gln328His
NM_001394783.1:c.984G>C (CCR5) MANE Select NP_001381712.1:p.Gln328His