Canonical Allele Identifier: CA114301
Gene: CPOX HGNC NCBI

Linked Data

ClinVar Variation Id: 459
ClinVar RCV Id: RCV000000488 RCV000415159 RCV001046689
dbSNP Id: rs28931603
ExAC: 3:98299553 G / A
gnomAD v2: 3-98299553-G-A
gnomAD v3: 3-98580709-G-A
gnomAD v4: 3-98580709-G-A
COSMIC: COSM4120802
MyVariant Identifiers: chr3:g.98299553G>A (hg19) chr3:g.98580709G>A (hg38)
PubMed: PMID:11309681 PMID:12181641
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98580709G>A , CM000665.2:g.98580709G>A GRCh38
NC_000003.11:g.98299553G>A , CM000665.1:g.98299553G>A GRCh37
NC_000003.10:g.99782243G>A NCBI36
NG_015994.1:g.17903C>T
NG_015994.2:g.17903C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000512905.6:c.163+698C>T
ENST00000647941.2:c.1339C>T MANE Select ENSP00000497326.1:p.Arg447Cys
ENST00000264193.2:c.1339C>T ENSP00000264193.2:p.Arg447Cys
ENST00000512905.5:c.163+698C>T
NM_000097.5:c.1339C>T NP_000088.3:p.Arg447Cys
XM_005247125.3:c.1173-2439C>T XP_005247182.1:n.1173-2439C>T
NM_000097.7:c.1339C>T MANE Select NP_000088.3:p.Arg447Cys
XM_005247125.4:c.1173-2439C>T XP_005247182.1:n.1173-2439C>T
XR_001740025.2:n.1344-2439C>T
XR_001740026.1:n.2074C>T
XR_001740027.1:n.1614C>T
XR_001740028.1:n.1580C>T
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