Canonical Allele Identifier: CA383780072
Gene: NANOG HGNC NCBI

Linked Data

dbSNP Id: rs1294490016
gnomAD v2: 12-7945588-G-T
gnomAD v4: 12-7792992-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7792992G>T , CM000674.2:g.7792992G>T GRCh38
NC_000012.11:g.7945588G>T , CM000674.1:g.7945588G>T GRCh37
NC_000012.10:g.7836855G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000229307.9:c.194G>T MANE Select ENSP00000229307.4:p.Ser65Ile
ENST00000229307.8:c.194G>T ENSP00000229307.4:p.Ser65Ile
ENST00000526286.1:c.194G>T ENSP00000435288.1:p.Ser65Ile
ENST00000526434.2:n.338G>T
ENST00000541267.5:c.122G>T ENSP00000444434.1:p.Ser41Ile
NM_001297698.1:c.194G>T NP_001284627.1:p.Ser65Ile
NM_024865.3:c.194G>T NP_079141.2:p.Ser65Ile
XM_011520850.1:c.194G>T XP_011519152.1:p.Ser65Ile
XM_011520851.1:c.122G>T XP_011519153.1:p.Ser41Ile
XM_011520852.1:c.-179G>T XP_011519154.1:n.-179G>T
NM_024865.4:c.194G>T MANE Select NP_079141.2:p.Ser65Ile
NM_001297698.2:c.194G>T NP_001284627.1:p.Ser65Ile