Canonical Allele Identifier: CA2511526
Gene: CPOX HGNC NCBI

Linked Data

ClinVar Variation Id: 2971443
ClinVar RCV Id: RCV003827625
dbSNP Id: rs781577964
ExAC: 3:98304387 C / T
gnomAD v2: 3-98304387-C-T
gnomAD v4: 3-98585543-C-T
MyVariant Identifiers: chr3:g.98304387C>T (hg19) chr3:g.98585543C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585543C>T , CM000665.2:g.98585543C>T GRCh38
NC_000003.11:g.98304387C>T , CM000665.1:g.98304387C>T GRCh37
NC_000003.10:g.99787077C>T NCBI36
NG_015994.1:g.13069G>A
NG_015994.2:g.13069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647941.2:c.1070G>A MANE Select ENSP00000497326.1:p.Cys357Tyr
ENST00000264193.2:c.1070G>A ENSP00000264193.2:p.Cys357Tyr
ENST00000510489.1:n.320G>A
NM_000097.5:c.1070G>A NP_000088.3:p.Cys357Tyr
XM_005247125.3:c.1070G>A XP_005247182.1:p.Cys357Tyr
NM_000097.7:c.1070G>A MANE Select NP_000088.3:p.Cys357Tyr
XM_005247125.4:c.1070G>A XP_005247182.1:p.Cys357Tyr
XR_001740025.2:n.1241G>A
XR_001740026.1:n.1805G>A
XR_001740027.1:n.1345G>A
XR_001740028.1:n.1311G>A
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