Canonical Allele Identifier: CA6429969

Gene: NANOG

Linked Data

• dbSNP Id: rs751764226
• ExAC: 12:7945645 T / C
• gnomAD v2: 12-7945645-T-C
• gnomAD v4: 12-7793049-T-C
• MyVariant Identifiers: chr12:g.7945645T>C (hg19) ; chr12:g.7793049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7793049T>C , CM000674.2:g.7793049T>C	GRCh38
NC_000012.11:g.7945645T>C , CM000674.1:g.7945645T>C	GRCh37
NC_000012.10:g.7836912T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229307.9:c.251T>C MANE Select	ENSP00000229307.4:p.Val84Ala
ENST00000229307.8:c.251T>C	ENSP00000229307.4:p.Val84Ala
ENST00000526286.1:c.251T>C	ENSP00000435288.1:p.Val84Ala
ENST00000526434.2:n.395T>C
ENST00000541267.5:c.179T>C	ENSP00000444434.1:p.Val60Ala
NM_001297698.1:c.251T>C	NP_001284627.1:p.Val84Ala
NM_024865.3:c.251T>C	NP_079141.2:p.Val84Ala
XM_011520850.1:c.251T>C	XP_011519152.1:p.Val84Ala
XM_011520851.1:c.179T>C	XP_011519153.1:p.Val60Ala
XM_011520852.1:c.-122T>C	XP_011519154.1:n.-122T>C
NM_024865.4:c.251T>C MANE Select	NP_079141.2:p.Val84Ala
NM_001297698.2:c.251T>C	NP_001284627.1:p.Val84Ala