Canonical Allele Identifier: CA353644998

Gene: CPOX

Linked Data

• ClinVar Variation Id: 1716081
• ClinVar RCV Id: RCV002295849
• gnomAD v4: 3-98585536-C-G
• MyVariant Identifiers: chr3:g.98304380C>G (hg19) ; chr3:g.98585536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585536C>G , CM000665.2:g.98585536C>G	GRCh38
NC_000003.11:g.98304380C>G , CM000665.1:g.98304380C>G	GRCh37
NC_000003.10:g.99787070C>G	NCBI36
NG_015994.1:g.13076G>C
NG_015994.2:g.13076G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647941.2:c.1077G>C MANE Select	ENSP00000497326.1:p.Arg359Ser
ENST00000264193.2:c.1077G>C	ENSP00000264193.2:p.Arg359Ser
ENST00000510489.1:n.327G>C
NM_000097.5:c.1077G>C	NP_000088.3:p.Arg359Ser
XM_005247125.3:c.1077G>C	XP_005247182.1:p.Arg359Ser
NM_000097.7:c.1077G>C MANE Select	NP_000088.3:p.Arg359Ser
XM_005247125.4:c.1077G>C	XP_005247182.1:p.Arg359Ser
XR_001740025.2:n.1248G>C
XR_001740026.1:n.1812G>C
XR_001740027.1:n.1352G>C
XR_001740028.1:n.1318G>C