Canonical Allele Identifier: CA353644876

Gene: CPOX

Linked Data

• gnomAD v4: 3-98585482-G-C
• MyVariant Identifiers: chr3:g.98304326G>C (hg19) ; chr3:g.98585482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585482G>C , CM000665.2:g.98585482G>C	GRCh38
NC_000003.11:g.98304326G>C , CM000665.1:g.98304326G>C	GRCh37
NC_000003.10:g.99787016G>C	NCBI36
NG_015994.1:g.13130C>G
NG_015994.2:g.13130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512905.6:c.17C>G
ENST00000647941.2:c.1131C>G MANE Select	ENSP00000497326.1:p.Phe377Leu
ENST00000264193.2:c.1131C>G	ENSP00000264193.2:p.Phe377Leu
ENST00000510489.1:n.381C>G
ENST00000512905.5:c.17C>G
NM_000097.5:c.1131C>G	NP_000088.3:p.Phe377Leu
XM_005247125.3:c.1131C>G	XP_005247182.1:p.Phe377Leu
NM_000097.7:c.1131C>G MANE Select	NP_000088.3:p.Phe377Leu
XM_005247125.4:c.1131C>G	XP_005247182.1:p.Phe377Leu
XR_001740025.2:n.1302C>G
XR_001740026.1:n.1866C>G
XR_001740027.1:n.1406C>G
XR_001740028.1:n.1372C>G