Canonical Allele Identifier: CA383780792
Gene: NANOG HGNC NCBI

Linked Data

dbSNP Id: rs1471066954
gnomAD v2: 12-7945695-G-C
gnomAD v4: 12-7793099-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7793099G>C , CM000674.2:g.7793099G>C GRCh38
NC_000012.11:g.7945695G>C , CM000674.1:g.7945695G>C GRCh37
NC_000012.10:g.7836962G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000229307.9:c.301G>C MANE Select ENSP00000229307.4:p.Val101Leu
ENST00000229307.8:c.301G>C ENSP00000229307.4:p.Val101Leu
ENST00000526286.1:c.301G>C ENSP00000435288.1:p.Val101Leu
ENST00000526434.2:n.445G>C
ENST00000541267.5:c.229G>C ENSP00000444434.1:p.Val77Leu
NM_001297698.1:c.301G>C NP_001284627.1:p.Val101Leu
NM_024865.3:c.301G>C NP_079141.2:p.Val101Leu
XM_011520850.1:c.301G>C XP_011519152.1:p.Val101Leu
XM_011520851.1:c.229G>C XP_011519153.1:p.Val77Leu
XM_011520852.1:c.-72G>C XP_011519154.1:n.-72G>C
NM_024865.4:c.301G>C MANE Select NP_079141.2:p.Val101Leu
NM_001297698.2:c.301G>C NP_001284627.1:p.Val101Leu