Canonical Allele Identifier: CA383780626
Gene: NANOG HGNC NCBI

Linked Data

dbSNP Id: rs1862865018
gnomAD v4: 12-7793073-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7793073C>T , CM000674.2:g.7793073C>T GRCh38
NC_000012.11:g.7945669C>T , CM000674.1:g.7945669C>T GRCh37
NC_000012.10:g.7836936C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000229307.9:c.275C>T MANE Select ENSP00000229307.4:p.Pro92Leu
ENST00000229307.8:c.275C>T ENSP00000229307.4:p.Pro92Leu
ENST00000526286.1:c.275C>T ENSP00000435288.1:p.Pro92Leu
ENST00000526434.2:n.419C>T
ENST00000541267.5:c.203C>T ENSP00000444434.1:p.Pro68Leu
NM_001297698.1:c.275C>T NP_001284627.1:p.Pro92Leu
NM_024865.3:c.275C>T NP_079141.2:p.Pro92Leu
XM_011520850.1:c.275C>T XP_011519152.1:p.Pro92Leu
XM_011520851.1:c.203C>T XP_011519153.1:p.Pro68Leu
XM_011520852.1:c.-98C>T XP_011519154.1:n.-98C>T
NM_024865.4:c.275C>T MANE Select NP_079141.2:p.Pro92Leu
NM_001297698.2:c.275C>T NP_001284627.1:p.Pro92Leu