Canonical Allele Identifier: CA2511542

Gene: CPOX

Linked Data

• dbSNP Id: rs757811105
• ExAC: 3:98304449 A / C
• gnomAD v2: 3-98304449-A-C
• gnomAD v4: 3-98585605-A-C
• MyVariant Identifiers: chr3:g.98304449A>C (hg19) ; chr3:g.98585605A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585605A>C , CM000665.2:g.98585605A>C	GRCh38
NC_000003.11:g.98304449A>C , CM000665.1:g.98304449A>C	GRCh37
NC_000003.10:g.99787139A>C	NCBI36
NG_015994.1:g.13007T>G
NG_015994.2:g.13007T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.1008T>G MANE Select	ENSP00000497326.1:p.Gly336=
ENST00000264193.2:c.1008T>G	ENSP00000264193.2:p.Gly336=
ENST00000510489.1:n.258T>G
NM_000097.5:c.1008T>G	NP_000088.3:p.Gly336=
XM_005247125.3:c.1008T>G	XP_005247182.1:p.Gly336=
NM_000097.7:c.1008T>G MANE Select	NP_000088.3:p.Gly336=
XM_005247125.4:c.1008T>G	XP_005247182.1:p.Gly336=
XR_001740025.2:n.1179T>G
XR_001740026.1:n.1743T>G
XR_001740027.1:n.1283T>G
XR_001740028.1:n.1249T>G