Canonical Allele Identifier: CA2511504

Gene: CPOX

Linked Data

• ClinVar Variation Id: 1601251
• ClinVar RCV Id: RCV002136804
• dbSNP Id: rs140055617
• ExAC: 3:98304268 G / A
• gnomAD v2: 3-98304268-G-A
• gnomAD v3: 3-98585424-G-A
• gnomAD v4: 3-98585424-G-A
• MyVariant Identifiers: chr3:g.98304268G>A (hg19) ; chr3:g.98585424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585424G>A , CM000665.2:g.98585424G>A	GRCh38
NC_000003.11:g.98304268G>A , CM000665.1:g.98304268G>A	GRCh37
NC_000003.10:g.99786958G>A	NCBI36
NG_015994.1:g.13188C>T
NG_015994.2:g.13188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512905.6:c.58+17C>T
ENST00000647941.2:c.1172+17C>T MANE Select	ENSP00000497326.1:n.1172+17C>T
ENST00000264193.2:c.1172+17C>T	ENSP00000264193.2:n.1172+17C>T
ENST00000510489.1:n.422+17C>T
ENST00000512905.5:c.58+17C>T
NM_000097.5:c.1172+17C>T	NP_000088.3:n.1172+17C>T
XM_005247125.3:c.1172+17C>T	XP_005247182.1:n.1172+17C>T
NM_000097.7:c.1172+17C>T MANE Select	NP_000088.3:n.1172+17C>T
XM_005247125.4:c.1172+17C>T	XP_005247182.1:n.1172+17C>T
XR_001740025.2:n.1343+17C>T
XR_001740026.1:n.1907+17C>T
XR_001740027.1:n.1447+17C>T
XR_001740028.1:n.1413+17C>T