Canonical Allele Identifier: CA409483702
Gene: ZNF831 HGNC NCBI

Linked Data

ClinVar Variation Id: 2475256
ClinVar RCV Id: RCV004264829

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59195914T>C , CM000682.2:g.59195914T>C GRCh38
NC_000020.10:g.57770969T>C , CM000682.1:g.57770969T>C GRCh37
NC_000020.9:g.57204364T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371030.4:c.3784T>C MANE Select ENSP00000360069.2:p.Ser1262Pro
ENST00000371030.3:c.3784T>C ENSP00000360069.2:p.Ser1262Pro
ENST00000637017.1:c.3784T>C ENSP00000490240.1:p.Ser1262Pro
ENST00000371030.2:c.3784T>C ENSP00000360069.2:p.Ser1262Pro
NM_178457.2:c.3784T>C NP_848552.1:p.Ser1262Pro
XM_005260272.2:c.3784T>C XP_005260329.1:p.Ser1262Pro
XM_005260273.2:c.3784T>C XP_005260330.1:p.Ser1262Pro
XM_006723698.2:c.3784T>C XP_006723761.1:p.Ser1262Pro
XM_011528533.1:c.3784T>C XP_011526835.1:p.Ser1262Pro
XM_011528534.1:c.3784T>C XP_011526836.1:p.Ser1262Pro
XM_011528535.1:c.3784T>C XP_011526837.1:p.Ser1262Pro
XM_011528536.1:c.3784T>C XP_011526838.1:p.Ser1262Pro
XM_011528537.1:c.3784T>C XP_011526839.1:p.Ser1262Pro
XM_011528538.1:c.3784T>C XP_011526840.1:p.Ser1262Pro
XM_011528539.1:c.3784T>C XP_011526841.1:p.Ser1262Pro
XM_005260272.3:c.3784T>C XP_005260329.1:p.Ser1262Pro
XM_005260273.3:c.3784T>C XP_005260330.1:p.Ser1262Pro
XM_006723698.3:c.3784T>C XP_006723761.1:p.Ser1262Pro
XM_011528534.2:c.3784T>C XP_011526836.1:p.Ser1262Pro
XM_011528536.2:c.3784T>C XP_011526838.1:p.Ser1262Pro
XM_011528537.2:c.3784T>C XP_011526839.1:p.Ser1262Pro
XM_011528538.2:c.3784T>C XP_011526840.1:p.Ser1262Pro
XM_017027642.1:c.3784T>C XP_016883131.1:p.Ser1262Pro
XM_017027643.1:c.3784T>C XP_016883132.1:p.Ser1262Pro
XM_017027644.1:c.3784T>C XP_016883133.1:p.Ser1262Pro
NM_001384354.1:c.3784T>C NP_001371283.1:p.Ser1262Pro
NM_178457.3:c.3784T>C MANE Select NP_848552.1:p.Ser1262Pro