Canonical Allele Identifier: CA353644870

Gene: CPOX

Linked Data

• ClinVar Variation Id: 1691675
• ClinVar RCV Id: RCV002255081
• dbSNP Id: rs2107120148
• MyVariant Identifiers: chr3:g.98304324G>A (hg19) ; chr3:g.98585480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585480G>A , CM000665.2:g.98585480G>A	GRCh38
NC_000003.11:g.98304324G>A , CM000665.1:g.98304324G>A	GRCh37
NC_000003.10:g.99787014G>A	NCBI36
NG_015994.1:g.13132C>T
NG_015994.2:g.13132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512905.6:c.19C>T
ENST00000647941.2:c.1133C>T MANE Select	ENSP00000497326.1:p.Thr378Ile
ENST00000264193.2:c.1133C>T	ENSP00000264193.2:p.Thr378Ile
ENST00000510489.1:n.383C>T
ENST00000512905.5:c.19C>T
NM_000097.5:c.1133C>T	NP_000088.3:p.Thr378Ile
XM_005247125.3:c.1133C>T	XP_005247182.1:p.Thr378Ile
NM_000097.7:c.1133C>T MANE Select	NP_000088.3:p.Thr378Ile
XM_005247125.4:c.1133C>T	XP_005247182.1:p.Thr378Ile
XR_001740025.2:n.1304C>T
XR_001740026.1:n.1868C>T
XR_001740027.1:n.1408C>T
XR_001740028.1:n.1374C>T