Canonical Allele Identifier: CA2511559

Gene: CPOX

Linked Data

• dbSNP Id: rs751091246
• ExAC: 3:98304549 C / A
• gnomAD v2: 3-98304549-C-A
• gnomAD v4: 3-98585705-C-A
• MyVariant Identifiers: chr3:g.98304549C>A (hg19) ; chr3:g.98585705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585705C>A , CM000665.2:g.98585705C>A	GRCh38
NC_000003.11:g.98304549C>A , CM000665.1:g.98304549C>A	GRCh37
NC_000003.10:g.99787239C>A	NCBI36
NG_015994.1:g.12907G>T
NG_015994.2:g.12907G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.954-46G>T MANE Select	ENSP00000497326.1:n.954-46G>T
ENST00000264193.2:c.954-46G>T	ENSP00000264193.2:n.954-46G>T
ENST00000510489.1:n.158G>T
NM_000097.5:c.954-46G>T	NP_000088.3:n.954-46G>T
XM_005247125.3:c.954-46G>T	XP_005247182.1:n.954-46G>T
NM_000097.7:c.954-46G>T MANE Select	NP_000088.3:n.954-46G>T
XM_005247125.4:c.954-46G>T	XP_005247182.1:n.954-46G>T
XR_001740025.2:n.1125-46G>T
XR_001740026.1:n.1643G>T
XR_001740027.1:n.1229-46G>T
XR_001740028.1:n.1195-46G>T