Canonical Allele Identifier: CA353644872
Gene: CPOX HGNC NCBI

Linked Data

gnomAD v4: 3-98585480-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585480G>T , CM000665.2:g.98585480G>T GRCh38
NC_000003.11:g.98304324G>T , CM000665.1:g.98304324G>T GRCh37
NC_000003.10:g.99787014G>T NCBI36
NG_015994.1:g.13132C>A
NG_015994.2:g.13132C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000512905.6:c.19C>A
ENST00000647941.2:c.1133C>A MANE Select ENSP00000497326.1:p.Thr378Asn
ENST00000264193.2:c.1133C>A ENSP00000264193.2:p.Thr378Asn
ENST00000510489.1:n.383C>A
ENST00000512905.5:c.19C>A
NM_000097.5:c.1133C>A NP_000088.3:p.Thr378Asn
XM_005247125.3:c.1133C>A XP_005247182.1:p.Thr378Asn
NM_000097.7:c.1133C>A MANE Select NP_000088.3:p.Thr378Asn
XM_005247125.4:c.1133C>A XP_005247182.1:p.Thr378Asn
XR_001740025.2:n.1304C>A
XR_001740026.1:n.1868C>A
XR_001740027.1:n.1408C>A
XR_001740028.1:n.1374C>A