Canonical Allele Identifier: CA353644844
Gene: CPOX HGNC NCBI

Linked Data

gnomAD v4: 3-98585467-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585467C>A , CM000665.2:g.98585467C>A GRCh38
NC_000003.11:g.98304311C>A , CM000665.1:g.98304311C>A GRCh37
NC_000003.10:g.99787001C>A NCBI36
NG_015994.1:g.13145G>T
NG_015994.2:g.13145G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000512905.6:c.32G>T
ENST00000647941.2:c.1146G>T MANE Select ENSP00000497326.1:p.Lys382Asn
ENST00000264193.2:c.1146G>T ENSP00000264193.2:p.Lys382Asn
ENST00000510489.1:n.396G>T
ENST00000512905.5:c.32G>T
NM_000097.5:c.1146G>T NP_000088.3:p.Lys382Asn
XM_005247125.3:c.1146G>T XP_005247182.1:p.Lys382Asn
NM_000097.7:c.1146G>T MANE Select NP_000088.3:p.Lys382Asn
XM_005247125.4:c.1146G>T XP_005247182.1:p.Lys382Asn
XR_001740025.2:n.1317G>T
XR_001740026.1:n.1881G>T
XR_001740027.1:n.1421G>T
XR_001740028.1:n.1387G>T