Canonical Allele Identifier: CA114304
Gene: CPOX HGNC NCBI

Linked Data

ClinVar Variation Id: 463
ClinVar RCV Id: RCV000000492
dbSNP Id: rs121917874

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98588831C>G , CM000665.2:g.98588831C>G GRCh38
NC_000003.11:g.98307675C>G , CM000665.1:g.98307675C>G GRCh37
NC_000003.10:g.99790365C>G NCBI36
NG_015994.1:g.9781G>C
NG_015994.2:g.9781G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647941.2:c.835G>C MANE Select ENSP00000497326.1:p.Gly279Arg
ENST00000264193.2:c.835G>C ENSP00000264193.2:p.Gly279Arg
NM_000097.5:c.835G>C NP_000088.3:p.Gly279Arg
XM_005247125.3:c.835G>C XP_005247182.1:p.Gly279Arg
XM_011512437.1:c.835G>C XP_011510739.1:p.Gly279Arg
NM_000097.7:c.835G>C MANE Select NP_000088.3:p.Gly279Arg
XM_005247125.4:c.835G>C XP_005247182.1:p.Gly279Arg
XR_001740025.2:n.1006G>C
XR_001740026.1:n.1011G>C
XR_001740027.1:n.1110G>C
XR_001740028.1:n.1076G>C