Canonical Allele Identifier: CA10635589

Gene: NODAL

Linked Data

• ClinVar Variation Id: 300294
• ClinVar RCV Id: RCV000290925 ; RCV000395059
• dbSNP Id: rs80138796
• gnomAD v2: 10-72192213-G-A
• gnomAD v3: 10-70432457-G-A
• gnomAD v4: 10-70432457-G-A
• MyVariant Identifiers: chr10:g.72192213G>A (hg19) ; chr10:g.70432457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70432457G>A , CM000672.2:g.70432457G>A	GRCh38
NC_000010.10:g.72192213G>A , CM000672.1:g.72192213G>A	GRCh37
NC_000010.9:g.71862219G>A	NCBI36
NG_012448.1:g.14253C>T
NG_012448.2:g.20492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287139.8:c.*479C>T MANE Select	ENSP00000287139.3:n.*479C>T
ENST00000287139.7:c.1523C>T	ENSP00000287139.3:n.1523C>T
NM_018055.4:c.*479C>T	NP_060525.3:n.*479C>T
NM_001329906.1:c.*479C>T	NP_001316835.1:n.*479C>T
XM_024448028.1:c.*479C>T	XP_024303796.1:n.*479C>T
NM_018055.5:c.*479C>T MANE Select	NP_060525.3:n.*479C>T
NM_001329906.2:c.*479C>T	NP_001316835.1:n.*479C>T