Canonical Allele Identifier: CA376947140
Gene: NODAL HGNC NCBI

Linked Data

ClinVar Variation Id: 1010676
ClinVar RCV Id: RCV001308344
dbSNP Id: rs1441391199
gnomAD v2: 10-72201371-T-C
gnomAD v4: 10-70441615-T-C
MyVariant Identifiers: chr10:g.72201371T>C (hg19) chr10:g.70441615T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70441615T>C , CM000672.2:g.70441615T>C GRCh38
NC_000010.10:g.72201371T>C , CM000672.1:g.72201371T>C GRCh37
NC_000010.9:g.71871377T>C NCBI36
NG_012448.1:g.5095A>G
NG_012448.2:g.11334A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287139.8:c.53A>G MANE Select ENSP00000287139.3:p.Gln18Arg
ENST00000287139.7:c.53A>G ENSP00000287139.3:p.Gln18Arg
ENST00000414871.1:c.29-5632A>G ENSP00000394468.1:n.29-5632A>G
NM_018055.4:c.53A>G NP_060525.3:p.Gln18Arg
NM_001329906.1:c.-206-5632A>G NP_001316835.1:n.-206-5632A>G
XM_024448028.1:c.-207+416A>G XP_024303796.1:n.-207+416A>G
NM_018055.5:c.53A>G MANE Select NP_060525.3:p.Gln18Arg
NM_001329906.2:c.-206-5632A>G NP_001316835.1:n.-206-5632A>G
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