Canonical Allele Identifier: CA80083038

Gene: CPOX

Linked Data

• dbSNP Id: rs914480044
• gnomAD v3: 3-98585388-C-G
• gnomAD v4: 3-98585388-C-G
• MyVariant Identifiers: chr3:g.98304232C>G (hg19) ; chr3:g.98585388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585388C>G , CM000665.2:g.98585388C>G	GRCh38
NC_000003.11:g.98304232C>G , CM000665.1:g.98304232C>G	GRCh37
NC_000003.10:g.99786922C>G	NCBI36
NG_015994.1:g.13224G>C
NG_015994.2:g.13224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512905.6:c.58+53G>C
ENST00000647941.2:c.1172+53G>C MANE Select	ENSP00000497326.1:n.1172+53G>C
ENST00000264193.2:c.1172+53G>C	ENSP00000264193.2:n.1172+53G>C
ENST00000510489.1:n.422+53G>C
ENST00000512905.5:c.58+53G>C
NM_000097.5:c.1172+53G>C	NP_000088.3:n.1172+53G>C
XM_005247125.3:c.1172+53G>C	XP_005247182.1:n.1172+53G>C
NM_000097.7:c.1172+53G>C MANE Select	NP_000088.3:n.1172+53G>C
XM_005247125.4:c.1172+53G>C	XP_005247182.1:n.1172+53G>C
XR_001740025.2:n.1343+53G>C
XR_001740026.1:n.1907+53G>C
XR_001740027.1:n.1447+53G>C
XR_001740028.1:n.1413+53G>C