Canonical Allele Identifier: CA383781231
Gene: NANOG HGNC NCBI

Linked Data

dbSNP Id: rs1157451954
gnomAD v3: 12-7793192-C-G
gnomAD v4: 12-7793192-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7793192C>G , CM000674.2:g.7793192C>G GRCh38
NC_000012.11:g.7945788C>G , CM000674.1:g.7945788C>G GRCh37
NC_000012.10:g.7837055C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000229307.9:c.394C>G MANE Select ENSP00000229307.4:p.Leu132Val
ENST00000229307.8:c.394C>G ENSP00000229307.4:p.Leu132Val
ENST00000526286.1:c.394C>G ENSP00000435288.1:p.Leu132Val
ENST00000526434.2:n.538C>G
ENST00000541267.5:c.322C>G ENSP00000444434.1:p.Leu108Val
NM_001297698.1:c.394C>G NP_001284627.1:p.Leu132Val
NM_024865.3:c.394C>G NP_079141.2:p.Leu132Val
XM_011520850.1:c.394C>G XP_011519152.1:p.Leu132Val
XM_011520851.1:c.322C>G XP_011519153.1:p.Leu108Val
XM_011520852.1:c.22C>G XP_011519154.1:p.Leu8Val
NM_024865.4:c.394C>G MANE Select NP_079141.2:p.Leu132Val
NM_001297698.2:c.394C>G NP_001284627.1:p.Leu132Val