Canonical Allele Identifier: CA10616812
Gene: CPOX HGNC NCBI

Linked Data

ClinVar Variation Id: 346969
ClinVar RCV Id: RCV000335781
dbSNP Id: rs2229123
gnomAD v2: 3-98299432-C-T
gnomAD v3: 3-98580588-C-T
gnomAD v4: 3-98580588-C-T
MyVariant Identifiers: chr3:g.98299432C>T (hg19) chr3:g.98580588C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98580588C>T , CM000665.2:g.98580588C>T GRCh38
NC_000003.11:g.98299432C>T , CM000665.1:g.98299432C>T GRCh37
NC_000003.10:g.99782122C>T NCBI36
NG_015994.1:g.18024G>A
NG_015994.2:g.18024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000512905.6:c.163+819G>A
ENST00000647941.2:c.*95G>A MANE Select ENSP00000497326.1:n.*95G>A
ENST00000264193.2:c.*95G>A ENSP00000264193.2:n.*95G>A
ENST00000512905.5:c.163+819G>A
NM_000097.5:c.*95G>A NP_000088.3:n.*95G>A
XM_005247125.3:c.1173-2318G>A XP_005247182.1:n.1173-2318G>A
NM_000097.7:c.*95G>A MANE Select NP_000088.3:n.*95G>A
XM_005247125.4:c.1173-2318G>A XP_005247182.1:n.1173-2318G>A
XR_001740025.2:n.1344-2318G>A
XR_001740026.1:n.2195G>A
XR_001740027.1:n.1735G>A
XR_001740028.1:n.1701G>A
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