Canonical Allele Identifier: CA1051334481
Gene: CPOX HGNC NCBI

Linked Data

dbSNP Id: rs1707342934
gnomAD v3: 3-98585437-T-C
gnomAD v4: 3-98585437-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585437T>C , CM000665.2:g.98585437T>C GRCh38
NC_000003.11:g.98304281T>C , CM000665.1:g.98304281T>C GRCh37
NC_000003.10:g.99786971T>C NCBI36
NG_015994.1:g.13175A>G
NG_015994.2:g.13175A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000512905.6:c.58+4A>G
ENST00000647941.2:c.1172+4A>G MANE Select ENSP00000497326.1:n.1172+4A>G
ENST00000264193.2:c.1172+4A>G ENSP00000264193.2:n.1172+4A>G
ENST00000510489.1:n.422+4A>G
ENST00000512905.5:c.58+4A>G
NM_000097.5:c.1172+4A>G NP_000088.3:n.1172+4A>G
XM_005247125.3:c.1172+4A>G XP_005247182.1:n.1172+4A>G
NM_000097.7:c.1172+4A>G MANE Select NP_000088.3:n.1172+4A>G
XM_005247125.4:c.1172+4A>G XP_005247182.1:n.1172+4A>G
XR_001740025.2:n.1343+4A>G
XR_001740026.1:n.1907+4A>G
XR_001740027.1:n.1447+4A>G
XR_001740028.1:n.1413+4A>G