Canonical Allele Identifier: CA2511513

Gene: CPOX

Linked Data

• dbSNP Id: rs763039639
• ExAC: 3:98304318 T / G
• gnomAD v2: 3-98304318-T-G
• MyVariant Identifiers: chr3:g.98304318T>G (hg19) ; chr3:g.98585474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585474T>G , CM000665.2:g.98585474T>G	GRCh38
NC_000003.11:g.98304318T>G , CM000665.1:g.98304318T>G	GRCh37
NC_000003.10:g.99787008T>G	NCBI36
NG_015994.1:g.13138A>C
NG_015994.2:g.13138A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512905.6:c.25A>C
ENST00000647941.2:c.1139A>C MANE Select	ENSP00000497326.1:p.Gln380Pro
ENST00000264193.2:c.1139A>C	ENSP00000264193.2:p.Gln380Pro
ENST00000510489.1:n.389A>C
ENST00000512905.5:c.25A>C
NM_000097.5:c.1139A>C	NP_000088.3:p.Gln380Pro
XM_005247125.3:c.1139A>C	XP_005247182.1:p.Gln380Pro
NM_000097.7:c.1139A>C MANE Select	NP_000088.3:p.Gln380Pro
XM_005247125.4:c.1139A>C	XP_005247182.1:p.Gln380Pro
XR_001740025.2:n.1310A>C
XR_001740026.1:n.1874A>C
XR_001740027.1:n.1414A>C
XR_001740028.1:n.1380A>C