Canonical Allele Identifier: CA223516
Gene: NODAL HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.70435629C>T
GRCh37 chr10:g.72195385C>T
Revel Score:
ENST00000420338 0.251
ENST00000287139 (MANE Select) 0.500
ENST00000414871 0.500
gnomAD v2:
10:72195385 C / T
gnomAD v3:
10:70435629 C / T
gnomAD v4:
chr10-70435629-C-T
Joint Max Group AF 0.00078123 (AFR)
Genomes Max Group AF 0.00053911 (AFR)
Exomes Max Group AF 0.00092701 (AFR)
ClinVar Allele:
23307
ClinVar RCV:
RCV000008757
RCV000081931
ClinVar Variation:
8268
dbSNP:
104894169
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70435629C>T , CM000672.2:g.70435629C>T GRCh38
NC_000010.10:g.72195385C>T , CM000672.1:g.72195385C>T GRCh37
NC_000010.9:g.71865391C>T NCBI36
NG_012448.1:g.11081G>A
NG_012448.2:g.17320G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287139.8:c.548G>A MANE Select ENSP00000287139.3:p.Arg183Gln
ENST00000287139.7:c.548G>A ENSP00000287139.3:p.Arg183Gln
ENST00000414871.1:c.383G>A ENSP00000394468.1:p.Arg128Gln
NM_018055.4:c.548G>A NP_060525.3:p.Arg183Gln
NM_001329906.1:c.149G>A NP_001316835.1:p.Arg50Gln
XM_024448028.1:c.149G>A XP_024303796.1:p.Arg50Gln
NM_018055.5:c.548G>A MANE Select NP_060525.3:p.Arg183Gln
NM_001329906.2:c.149G>A NP_001316835.1:p.Arg50Gln
Search 100 bp 5'
Search 100 bp 3'