Canonical Allele Identifier: CA2511546
Gene: CPOX HGNC NCBI

Linked Data

ClinVar Variation Id: 346977
ClinVar RCV Id: RCV000306781 RCV001517925 RCV001699332
dbSNP Id: rs1729995
ExAC: 3:98304467 T / C
gnomAD v2: 3-98304467-T-C
gnomAD v3: 3-98585623-T-C
gnomAD v4: 3-98585623-T-C
MyVariant Identifiers: chr3:g.98304467T>C (hg19) chr3:g.98585623T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585623T>C , CM000665.2:g.98585623T>C GRCh38
NC_000003.11:g.98304467T>C , CM000665.1:g.98304467T>C GRCh37
NC_000003.10:g.99787157T>C NCBI36
NG_015994.1:g.12989A>G
NG_015994.2:g.12989A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647941.2:c.990A>G MANE Select ENSP00000497326.1:p.Glu330=
ENST00000264193.2:c.990A>G ENSP00000264193.2:p.Glu330=
ENST00000510489.1:n.240A>G
NM_000097.5:c.990A>G NP_000088.3:p.Glu330=
XM_005247125.3:c.990A>G XP_005247182.1:p.Glu330=
NM_000097.7:c.990A>G MANE Select NP_000088.3:p.Glu330=
XM_005247125.4:c.990A>G XP_005247182.1:p.Glu330=
XR_001740025.2:n.1161A>G
XR_001740026.1:n.1725A>G
XR_001740027.1:n.1265A>G
XR_001740028.1:n.1231A>G
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