Canonical Allele Identifier: CA209320076
Gene: NODAL HGNC NCBI

Linked Data

ClinVar Variation Id: 879713
ClinVar RCV Id: RCV001107420 RCV001107421
dbSNP Id: rs753318696
gnomAD v2: 10-72191963-T-C
gnomAD v3: 10-70432207-T-C
gnomAD v4: 10-70432207-T-C
MyVariant Identifiers: chr10:g.72191963T>C (hg19) chr10:g.70432207T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70432207T>C , CM000672.2:g.70432207T>C GRCh38
NC_000010.10:g.72191963T>C , CM000672.1:g.72191963T>C GRCh37
NC_000010.9:g.71861969T>C NCBI36
NG_012448.1:g.14503A>G
NG_012448.2:g.20742A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000287139.8:c.*729A>G MANE Select ENSP00000287139.3:n.*729A>G
NM_018055.4:c.*729A>G NP_060525.3:n.*729A>G
NM_001329906.1:c.*729A>G NP_001316835.1:n.*729A>G
NM_018055.5:c.*729A>G MANE Select NP_060525.3:n.*729A>G
NM_001329906.2:c.*729A>G NP_001316835.1:n.*729A>G
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