Canonical Allele Identifier: CA2511685

Gene: CPOX

Linked Data

• ClinVar Variation Id: 346982
• ClinVar RCV Id: RCV000265439 ; RCV000963133
• dbSNP Id: rs184983281
• ExAC: 3:98311784 C / T
• gnomAD v2: 3-98311784-C-T
• gnomAD v3: 3-98592940-C-T
• gnomAD v4: 3-98592940-C-T
• MyVariant Identifiers: chr3:g.98311784C>T (hg19) ; chr3:g.98592940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98592940C>T , CM000665.2:g.98592940C>T	GRCh38
NC_000003.11:g.98311784C>T , CM000665.1:g.98311784C>T	GRCh37
NC_000003.10:g.99794474C>T	NCBI36
NG_015994.1:g.5672G>A
NG_015994.2:g.5672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.556+9G>A MANE Select	ENSP00000497326.1:n.556+9G>A
ENST00000264193.2:c.556+9G>A	ENSP00000264193.2:n.556+9G>A
ENST00000513674.1:c.507+58G>A	ENSP00000424924.1:n.507+58G>A
ENST00000515041.1:n.662+9G>A
NM_000097.5:c.556+9G>A	NP_000088.3:n.556+9G>A
XM_005247125.3:c.556+9G>A	XP_005247182.1:n.556+9G>A
XM_011512437.1:c.556+9G>A	XP_011510739.1:n.556+9G>A
NM_000097.7:c.556+9G>A MANE Select	NP_000088.3:n.556+9G>A
XM_005247125.4:c.556+9G>A	XP_005247182.1:n.556+9G>A
XR_001740025.2:n.727+9G>A
XR_001740026.1:n.732+9G>A
XR_001740027.1:n.736+9G>A
XR_001740028.1:n.736+9G>A