Canonical Allele Identifier: CA10619762

Gene: CPOX

Linked Data

• ClinVar Variation Id: 346993
• ClinVar RCV Id: RCV000397238
• dbSNP Id: rs886058950
• gnomAD v4: 3-98593375-C-A
• MyVariant Identifiers: chr3:g.98312219C>A (hg19) ; chr3:g.98593375C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98593375C>A , CM000665.2:g.98593375C>A	GRCh38
NC_000003.11:g.98312219C>A , CM000665.1:g.98312219C>A	GRCh37
NC_000003.10:g.99794909C>A	NCBI36
NG_015994.1:g.5237G>T
NG_015994.2:g.5237G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.130G>T MANE Select	ENSP00000497326.1:p.Ala44Ser
ENST00000264193.2:c.130G>T	ENSP00000264193.2:p.Ala44Ser
ENST00000513674.1:c.130G>T	ENSP00000424924.1:p.Ala44Ser
ENST00000515041.1:n.236G>T
NM_000097.5:c.130G>T	NP_000088.3:p.Ala44Ser
XM_005247125.3:c.130G>T	XP_005247182.1:p.Ala44Ser
XM_011512437.1:c.130G>T	XP_011510739.1:p.Ala44Ser
NM_000097.7:c.130G>T MANE Select	NP_000088.3:p.Ala44Ser
XM_005247125.4:c.130G>T	XP_005247182.1:p.Ala44Ser
XR_001740025.2:n.301G>T
XR_001740026.1:n.306G>T
XR_001740027.1:n.310G>T
XR_001740028.1:n.310G>T