Canonical Allele Identifier: CA114303
Gene: CPOX HGNC NCBI

Linked Data

ClinVar Variation Id: 461
ClinVar RCV Id: RCV000000490
dbSNP Id: rs121917873
gnomAD v3: 3-98585631-G-A
gnomAD v4: 3-98585631-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585631G>A , CM000665.2:g.98585631G>A GRCh38
NC_000003.11:g.98304475G>A , CM000665.1:g.98304475G>A GRCh37
NC_000003.10:g.99787165G>A NCBI36
NG_015994.1:g.12981C>T
NG_015994.2:g.12981C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647941.2:c.982C>T MANE Select ENSP00000497326.1:p.Arg328Cys
ENST00000264193.2:c.982C>T ENSP00000264193.2:p.Arg328Cys
ENST00000510489.1:n.232C>T
NM_000097.5:c.982C>T NP_000088.3:p.Arg328Cys
XM_005247125.3:c.982C>T XP_005247182.1:p.Arg328Cys
NM_000097.7:c.982C>T MANE Select NP_000088.3:p.Arg328Cys
XM_005247125.4:c.982C>T XP_005247182.1:p.Arg328Cys
XR_001740025.2:n.1153C>T
XR_001740026.1:n.1717C>T
XR_001740027.1:n.1257C>T
XR_001740028.1:n.1223C>T