Canonical Allele Identifier: CA353645007

Gene: CPOX

Linked Data

• dbSNP Id: rs1239134864
• gnomAD v3: 3-98585541-C-A
• gnomAD v4: 3-98585541-C-A
• MyVariant Identifiers: chr3:g.98304385C>A (hg19) ; chr3:g.98585541C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98585541C>A , CM000665.2:g.98585541C>A	GRCh38
NC_000003.11:g.98304385C>A , CM000665.1:g.98304385C>A	GRCh37
NC_000003.10:g.99787075C>A	NCBI36
NG_015994.1:g.13071G>T
NG_015994.2:g.13071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647941.2:c.1072G>T MANE Select	ENSP00000497326.1:p.Ala358Ser
ENST00000264193.2:c.1072G>T	ENSP00000264193.2:p.Ala358Ser
ENST00000510489.1:n.322G>T
NM_000097.5:c.1072G>T	NP_000088.3:p.Ala358Ser
XM_005247125.3:c.1072G>T	XP_005247182.1:p.Ala358Ser
NM_000097.7:c.1072G>T MANE Select	NP_000088.3:p.Ala358Ser
XM_005247125.4:c.1072G>T	XP_005247182.1:p.Ala358Ser
XR_001740025.2:n.1243G>T
XR_001740026.1:n.1807G>T
XR_001740027.1:n.1347G>T
XR_001740028.1:n.1313G>T