Canonical Allele Identifier: CA10631928

Gene: NODAL

Linked Data

• ClinVar Variation Id: 300286
• ClinVar RCV Id: RCV000302995 ; RCV000364757
• dbSNP Id: rs886047098
• gnomAD v2: 10-72191856-C-G
• gnomAD v3: 10-70432100-C-G
• gnomAD v4: 10-70432100-C-G
• MyVariant Identifiers: chr10:g.72191856C>G (hg19) ; chr10:g.70432100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70432100C>G , CM000672.2:g.70432100C>G	GRCh38
NC_000010.10:g.72191856C>G , CM000672.1:g.72191856C>G	GRCh37
NC_000010.9:g.71861862C>G	NCBI36
NG_012448.1:g.14610G>C
NG_012448.2:g.20849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287139.8:c.*836G>C MANE Select	ENSP00000287139.3:n.*836G>C
NM_018055.4:c.*836G>C	NP_060525.3:n.*836G>C
NM_001329906.1:c.*836G>C	NP_001316835.1:n.*836G>C
NM_018055.5:c.*836G>C MANE Select	NP_060525.3:n.*836G>C
NM_001329906.2:c.*836G>C	NP_001316835.1:n.*836G>C