Canonical Allele Identifier: CA353647180
Gene: CPOX HGNC NCBI

Linked Data

dbSNP Id: rs121917871
gnomAD v3: 3-98593420-G-C
gnomAD v4: 3-98593420-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98593420G>C , CM000665.2:g.98593420G>C GRCh38
NC_000003.11:g.98312264G>C , CM000665.1:g.98312264G>C GRCh37
NC_000003.10:g.99794954G>C NCBI36
NG_015994.1:g.5192C>G
NG_015994.2:g.5192C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647941.2:c.85C>G MANE Select ENSP00000497326.1:p.Gln29Glu
ENST00000264193.2:c.85C>G ENSP00000264193.2:p.Gln29Glu
ENST00000513674.1:c.85C>G ENSP00000424924.1:p.Gln29Glu
ENST00000515041.1:n.191C>G
NM_000097.5:c.85C>G NP_000088.3:p.Gln29Glu
XM_005247125.3:c.85C>G XP_005247182.1:p.Gln29Glu
XM_011512437.1:c.85C>G XP_011510739.1:p.Gln29Glu
NM_000097.7:c.85C>G MANE Select NP_000088.3:p.Gln29Glu
XM_005247125.4:c.85C>G XP_005247182.1:p.Gln29Glu
XR_001740025.2:n.256C>G
XR_001740026.1:n.261C>G
XR_001740027.1:n.265C>G
XR_001740028.1:n.265C>G