Canonical Allele Identifier: CA353644864

Gene: CPOX

Linked Data

• dbSNP Id: rs201231166
• gnomAD v2: 3-98304319-G-T
• gnomAD v4: 3-98585475-G-T
• MyVariant Identifiers: chr3:g.98304319G>T (hg19) ; chr3:g.98585475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585475G>T , CM000665.2:g.98585475G>T	GRCh38
NC_000003.11:g.98304319G>T , CM000665.1:g.98304319G>T	GRCh37
NC_000003.10:g.99787009G>T	NCBI36
NG_015994.1:g.13137C>A
NG_015994.2:g.13137C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512905.6:c.24C>A
ENST00000647941.2:c.1138C>A MANE Select	ENSP00000497326.1:p.Gln380Lys
ENST00000264193.2:c.1138C>A	ENSP00000264193.2:p.Gln380Lys
ENST00000510489.1:n.388C>A
ENST00000512905.5:c.24C>A
NM_000097.5:c.1138C>A	NP_000088.3:p.Gln380Lys
XM_005247125.3:c.1138C>A	XP_005247182.1:p.Gln380Lys
NM_000097.7:c.1138C>A MANE Select	NP_000088.3:p.Gln380Lys
XM_005247125.4:c.1138C>A	XP_005247182.1:p.Gln380Lys
XR_001740025.2:n.1309C>A
XR_001740026.1:n.1873C>A
XR_001740027.1:n.1413C>A
XR_001740028.1:n.1379C>A