Canonical Allele Identifier: CA353645036

Gene: CPOX

Linked Data

• gnomAD v4: 3-98585553-C-T
• MyVariant Identifiers: chr3:g.98304397C>T (hg19) ; chr3:g.98585553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585553C>T , CM000665.2:g.98585553C>T	GRCh38
NC_000003.11:g.98304397C>T , CM000665.1:g.98304397C>T	GRCh37
NC_000003.10:g.99787087C>T	NCBI36
NG_015994.1:g.13059G>A
NG_015994.2:g.13059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.1060G>A MANE Select	ENSP00000497326.1:p.Val354Ile
ENST00000264193.2:c.1060G>A	ENSP00000264193.2:p.Val354Ile
ENST00000510489.1:n.310G>A
NM_000097.5:c.1060G>A	NP_000088.3:p.Val354Ile
XM_005247125.3:c.1060G>A	XP_005247182.1:p.Val354Ile
NM_000097.7:c.1060G>A MANE Select	NP_000088.3:p.Val354Ile
XM_005247125.4:c.1060G>A	XP_005247182.1:p.Val354Ile
XR_001740025.2:n.1231G>A
XR_001740026.1:n.1795G>A
XR_001740027.1:n.1335G>A
XR_001740028.1:n.1301G>A