Canonical Allele Identifier: CA434770535
Gene: CPOX HGNC NCBI

Linked Data

gnomAD v4: 3-98585452-G-A
MyVariant Identifiers: chr3:g.98304296G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585452G>A , CM000665.2:g.98585452G>A GRCh38
NC_000003.11:g.98304296G>A , CM000665.1:g.98304296G>A GRCh37
NC_000003.10:g.99786986G>A NCBI36
NG_015994.1:g.13160C>T
NG_015994.2:g.13160C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000512905.6:c.47C>T
ENST00000647941.2:c.1161C>T MANE Select ENSP00000497326.1:p.Leu387=
ENST00000264193.2:c.1161C>T ENSP00000264193.2:p.Leu387=
ENST00000510489.1:n.411C>T
ENST00000512905.5:c.47C>T
NM_000097.5:c.1161C>T NP_000088.3:p.Leu387=
XM_005247125.3:c.1161C>T XP_005247182.1:p.Leu387=
NM_000097.7:c.1161C>T MANE Select NP_000088.3:p.Leu387=
XM_005247125.4:c.1161C>T XP_005247182.1:p.Leu387=
XR_001740025.2:n.1332C>T
XR_001740026.1:n.1896C>T
XR_001740027.1:n.1436C>T
XR_001740028.1:n.1402C>T