Canonical Allele Identifier: CA383780323
Gene: NANOG HGNC NCBI

Linked Data

dbSNP Id: rs1188732894
gnomAD v2: 12-7945624-C-A
gnomAD v3: 12-7793028-C-A
gnomAD v4: 12-7793028-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7793028C>A , CM000674.2:g.7793028C>A GRCh38
NC_000012.11:g.7945624C>A , CM000674.1:g.7945624C>A GRCh37
NC_000012.10:g.7836891C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000229307.9:c.230C>A MANE Select ENSP00000229307.4:p.Pro77His
ENST00000229307.8:c.230C>A ENSP00000229307.4:p.Pro77His
ENST00000526286.1:c.230C>A ENSP00000435288.1:p.Pro77His
ENST00000526434.2:n.374C>A
ENST00000541267.5:c.158C>A ENSP00000444434.1:p.Pro53His
NM_001297698.1:c.230C>A NP_001284627.1:p.Pro77His
NM_024865.3:c.230C>A NP_079141.2:p.Pro77His
XM_011520850.1:c.230C>A XP_011519152.1:p.Pro77His
XM_011520851.1:c.158C>A XP_011519153.1:p.Pro53His
XM_011520852.1:c.-143C>A XP_011519154.1:n.-143C>A
NM_024865.4:c.230C>A MANE Select NP_079141.2:p.Pro77His
NM_001297698.2:c.230C>A NP_001284627.1:p.Pro77His