Canonical Allele Identifier: CA2666706649
Gene: CPOX HGNC NCBI

Linked Data

gnomAD v4: 3-98585432-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585432G>A , CM000665.2:g.98585432G>A GRCh38
NC_000003.11:g.98304276G>A , CM000665.1:g.98304276G>A GRCh37
NC_000003.10:g.99786966G>A NCBI36
NG_015994.1:g.13180C>T
NG_015994.2:g.13180C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000512905.6:c.58+9C>T
ENST00000647941.2:c.1172+9C>T MANE Select ENSP00000497326.1:n.1172+9C>T
ENST00000264193.2:c.1172+9C>T ENSP00000264193.2:n.1172+9C>T
ENST00000510489.1:n.422+9C>T
ENST00000512905.5:c.58+9C>T
NM_000097.5:c.1172+9C>T NP_000088.3:n.1172+9C>T
XM_005247125.3:c.1172+9C>T XP_005247182.1:n.1172+9C>T
NM_000097.7:c.1172+9C>T MANE Select NP_000088.3:n.1172+9C>T
XM_005247125.4:c.1172+9C>T XP_005247182.1:n.1172+9C>T
XR_001740025.2:n.1343+9C>T
XR_001740026.1:n.1907+9C>T
XR_001740027.1:n.1447+9C>T
XR_001740028.1:n.1413+9C>T