Canonical Allele Identifier: CA353645228

Gene: CPOX

Linked Data

• dbSNP Id: rs1425917131
• gnomAD v2: 3-98304487-A-G
• gnomAD v4: 3-98585643-A-G
• MyVariant Identifiers: chr3:g.98304487A>G (hg19) ; chr3:g.98585643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585643A>G , CM000665.2:g.98585643A>G	GRCh38
NC_000003.11:g.98304487A>G , CM000665.1:g.98304487A>G	GRCh37
NC_000003.10:g.99787177A>G	NCBI36
NG_015994.1:g.12969T>C
NG_015994.2:g.12969T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.970T>C MANE Select	ENSP00000497326.1:p.Phe324Leu
ENST00000264193.2:c.970T>C	ENSP00000264193.2:p.Phe324Leu
ENST00000510489.1:n.220T>C
NM_000097.5:c.970T>C	NP_000088.3:p.Phe324Leu
XM_005247125.3:c.970T>C	XP_005247182.1:p.Phe324Leu
NM_000097.7:c.970T>C MANE Select	NP_000088.3:p.Phe324Leu
XM_005247125.4:c.970T>C	XP_005247182.1:p.Phe324Leu
XR_001740025.2:n.1141T>C
XR_001740026.1:n.1705T>C
XR_001740027.1:n.1245T>C
XR_001740028.1:n.1211T>C