Canonical Allele Identifier: CA353644919
Gene: CPOX HGNC NCBI

Linked Data

dbSNP Id: rs1298021587
gnomAD v2: 3-98304343-G-A
gnomAD v3: 3-98585499-G-A
gnomAD v4: 3-98585499-G-A
COSMIC: COSM5556539
MyVariant Identifiers: chr3:g.98304343G>A (hg19) chr3:g.98585499G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.98585499G>A , CM000665.2:g.98585499G>A GRCh38
NC_000003.11:g.98304343G>A , CM000665.1:g.98304343G>A GRCh37
NC_000003.10:g.99787033G>A NCBI36
NG_015994.1:g.13113C>T
NG_015994.2:g.13113C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647941.2:c.1114C>T MANE Select ENSP00000497326.1:p.His372Tyr
ENST00000264193.2:c.1114C>T ENSP00000264193.2:p.His372Tyr
ENST00000510489.1:n.364C>T
NM_000097.5:c.1114C>T NP_000088.3:p.His372Tyr
XM_005247125.3:c.1114C>T XP_005247182.1:p.His372Tyr
NM_000097.7:c.1114C>T MANE Select NP_000088.3:p.His372Tyr
XM_005247125.4:c.1114C>T XP_005247182.1:p.His372Tyr
XR_001740025.2:n.1285C>T
XR_001740026.1:n.1849C>T
XR_001740027.1:n.1389C>T
XR_001740028.1:n.1355C>T
Search 100 bp 5'
Search 100 bp 3'