Canonical Allele Identifier: CA353644865

Gene: CPOX

Linked Data

• dbSNP Id: rs150235153
• gnomAD v2: 3-98304321-G-C
• gnomAD v3: 3-98585477-G-C
• gnomAD v4: 3-98585477-G-C
• MyVariant Identifiers: chr3:g.98304321G>C (hg19) ; chr3:g.98585477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585477G>C , CM000665.2:g.98585477G>C	GRCh38
NC_000003.11:g.98304321G>C , CM000665.1:g.98304321G>C	GRCh37
NC_000003.10:g.99787011G>C	NCBI36
NG_015994.1:g.13135C>G
NG_015994.2:g.13135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512905.6:c.22C>G
ENST00000647941.2:c.1136C>G MANE Select	ENSP00000497326.1:p.Pro379Arg
ENST00000264193.2:c.1136C>G	ENSP00000264193.2:p.Pro379Arg
ENST00000510489.1:n.386C>G
ENST00000512905.5:c.22C>G
NM_000097.5:c.1136C>G	NP_000088.3:p.Pro379Arg
XM_005247125.3:c.1136C>G	XP_005247182.1:p.Pro379Arg
NM_000097.7:c.1136C>G MANE Select	NP_000088.3:p.Pro379Arg
XM_005247125.4:c.1136C>G	XP_005247182.1:p.Pro379Arg
XR_001740025.2:n.1307C>G
XR_001740026.1:n.1871C>G
XR_001740027.1:n.1411C>G
XR_001740028.1:n.1377C>G