Canonical Allele Identifier: CA10616824
Gene: CPOX HGNC NCBI

Linked Data

ClinVar Variation Id: 347000
ClinVar RCV Id: RCV000297429
dbSNP Id: rs115030377
gnomAD v2: 3-98312403-C-G
gnomAD v3: 3-98593559-C-G
gnomAD v4: 3-98593559-C-G
MyVariant Identifiers: chr3:g.98312403C>G (hg19) chr3:g.98593559C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98593559C>G , CM000665.2:g.98593559C>G GRCh38
NC_000003.11:g.98312403C>G , CM000665.1:g.98312403C>G GRCh37
NC_000003.10:g.99795093C>G NCBI36
NG_015994.1:g.5053G>C
NG_015994.2:g.5053G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647941.2:c.-55G>C MANE Select ENSP00000497326.1:n.-55G>C
ENST00000264193.2:c.-55G>C ENSP00000264193.2:n.-55G>C
ENST00000513674.1:c.-55G>C ENSP00000424924.1:n.-55G>C
ENST00000515041.1:n.52G>C
NM_000097.5:c.-55G>C NP_000088.3:n.-55G>C
XM_005247125.3:c.-55G>C XP_005247182.1:n.-55G>C
XM_011512437.1:c.-55G>C XP_011510739.1:n.-55G>C
NM_000097.7:c.-55G>C MANE Select NP_000088.3:n.-55G>C
XM_005247125.4:c.-55G>C XP_005247182.1:n.-55G>C
XR_001740025.2:n.117G>C
XR_001740026.1:n.122G>C
XR_001740027.1:n.126G>C
XR_001740028.1:n.126G>C
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