Canonical Allele Identifier: CA6429990

Gene: NANOG

Linked Data

• dbSNP Id: rs760741283
• ExAC: 12:7945776 C / A
• gnomAD v2: 12-7945776-C-A
• gnomAD v4: 12-7793180-C-A
• MyVariant Identifiers: chr12:g.7945776C>A (hg19) ; chr12:g.7793180C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7793180C>A , CM000674.2:g.7793180C>A	GRCh38
NC_000012.11:g.7945776C>A , CM000674.1:g.7945776C>A	GRCh37
NC_000012.10:g.7837043C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229307.9:c.382C>A MANE Select	ENSP00000229307.4:p.Leu128Ile
ENST00000229307.8:c.382C>A	ENSP00000229307.4:p.Leu128Ile
ENST00000526286.1:c.382C>A	ENSP00000435288.1:p.Leu128Ile
ENST00000526434.2:n.526C>A
ENST00000541267.5:c.310C>A	ENSP00000444434.1:p.Leu104Ile
NM_001297698.1:c.382C>A	NP_001284627.1:p.Leu128Ile
NM_024865.3:c.382C>A	NP_079141.2:p.Leu128Ile
XM_011520850.1:c.382C>A	XP_011519152.1:p.Leu128Ile
XM_011520851.1:c.310C>A	XP_011519153.1:p.Leu104Ile
XM_011520852.1:c.10C>A	XP_011519154.1:p.Leu4Ile
NM_024865.4:c.382C>A MANE Select	NP_079141.2:p.Leu128Ile
NM_001297698.2:c.382C>A	NP_001284627.1:p.Leu128Ile