Canonical Allele Identifier: CA10636012

Gene: NODAL

Linked Data

• ClinVar Variation Id: 300293
• ClinVar RCV Id: RCV000287323 ; RCV000339972
• dbSNP Id: rs886047101
• gnomAD v2: 10-72192212-C-T
• gnomAD v3: 10-70432456-C-T
• gnomAD v4: 10-70432456-C-T
• MyVariant Identifiers: chr10:g.72192212C>T (hg19) ; chr10:g.70432456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70432456C>T , CM000672.2:g.70432456C>T	GRCh38
NC_000010.10:g.72192212C>T , CM000672.1:g.72192212C>T	GRCh37
NC_000010.9:g.71862218C>T	NCBI36
NG_012448.1:g.14254G>A
NG_012448.2:g.20493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287139.8:c.*480G>A MANE Select	ENSP00000287139.3:n.*480G>A
ENST00000287139.7:c.1524G>A	ENSP00000287139.3:n.1524G>A
NM_018055.4:c.*480G>A	NP_060525.3:n.*480G>A
NM_001329906.1:c.*480G>A	NP_001316835.1:n.*480G>A
XM_024448028.1:c.*480G>A	XP_024303796.1:n.*480G>A
NM_018055.5:c.*480G>A MANE Select	NP_060525.3:n.*480G>A
NM_001329906.2:c.*480G>A	NP_001316835.1:n.*480G>A