Canonical Allele Identifier: CA2511549

Gene: CPOX

Linked Data

• dbSNP Id: rs774609973
• ExAC: 3:98304491 G / A
• gnomAD v2: 3-98304491-G-A
• gnomAD v4: 3-98585647-G-A
• MyVariant Identifiers: chr3:g.98304491G>A (hg19) ; chr3:g.98585647G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585647G>A , CM000665.2:g.98585647G>A	GRCh38
NC_000003.11:g.98304491G>A , CM000665.1:g.98304491G>A	GRCh37
NC_000003.10:g.99787181G>A	NCBI36
NG_015994.1:g.12965C>T
NG_015994.2:g.12965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.966C>T MANE Select	ENSP00000497326.1:p.Tyr322=
ENST00000264193.2:c.966C>T	ENSP00000264193.2:p.Tyr322=
ENST00000510489.1:n.216C>T
NM_000097.5:c.966C>T	NP_000088.3:p.Tyr322=
XM_005247125.3:c.966C>T	XP_005247182.1:p.Tyr322=
NM_000097.7:c.966C>T MANE Select	NP_000088.3:p.Tyr322=
XM_005247125.4:c.966C>T	XP_005247182.1:p.Tyr322=
XR_001740025.2:n.1137C>T
XR_001740026.1:n.1701C>T
XR_001740027.1:n.1241C>T
XR_001740028.1:n.1207C>T