Canonical Allele Identifier: CA2511512

Gene: CPOX

Linked Data

• ClinVar Variation Id: 901023
• ClinVar RCV Id: RCV001146647 ; RCV002070778 ; RCV003963085
• dbSNP Id: rs533745033
• ExAC: 3:98304308 C / T
• gnomAD v2: 3-98304308-C-T
• gnomAD v3: 3-98585464-C-T
• gnomAD v4: 3-98585464-C-T
• MyVariant Identifiers: chr3:g.98304308C>T (hg19) ; chr3:g.98585464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585464C>T , CM000665.2:g.98585464C>T	GRCh38
NC_000003.11:g.98304308C>T , CM000665.1:g.98304308C>T	GRCh37
NC_000003.10:g.99786998C>T	NCBI36
NG_015994.1:g.13148G>A
NG_015994.2:g.13148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512905.6:c.35G>A
ENST00000647941.2:c.1149G>A MANE Select	ENSP00000497326.1:p.Leu383=
ENST00000264193.2:c.1149G>A	ENSP00000264193.2:p.Leu383=
ENST00000510489.1:n.399G>A
ENST00000512905.5:c.35G>A
NM_000097.5:c.1149G>A	NP_000088.3:p.Leu383=
XM_005247125.3:c.1149G>A	XP_005247182.1:p.Leu383=
NM_000097.7:c.1149G>A MANE Select	NP_000088.3:p.Leu383=
XM_005247125.4:c.1149G>A	XP_005247182.1:p.Leu383=
XR_001740025.2:n.1320G>A
XR_001740026.1:n.1884G>A
XR_001740027.1:n.1424G>A
XR_001740028.1:n.1390G>A