Canonical Allele Identifier: CA114828
Gene: RSPO4 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.968000C>T
GRCh37 chr20:g.948643C>T
Revel Score:
ENST00000217260 (MANE Select) 0.896
ENST00000400634 0.896
gnomAD v2:
20:948643 C / T
gnomAD v3:
20:968000 C / T
gnomAD v4:
chr20-968000-C-T
Joint Max Group AF 0.00001724 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00001627 (NFE)
ClinVar RCV:
RCV000001252
ClinVar Variation:
1193
dbSNP:
74315423
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.968000C>T , CM000682.2:g.968000C>T GRCh38
NC_000020.10:g.948643C>T , CM000682.1:g.948643C>T GRCh37
NC_000020.9:g.896643C>T NCBI36
NG_013043.1:g.39265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217260.9:c.218G>A MANE Select ENSP00000217260.4:p.Cys73Tyr
ENST00000217260.8:c.218G>A ENSP00000217260.4:p.Cys73Tyr
ENST00000400634.2:c.218G>A ENSP00000383475.2:p.Cys73Tyr
NM_001029871.3:c.218G>A NP_001025042.2:p.Cys73Tyr
NM_001040007.2:c.218G>A NP_001035096.1:p.Cys73Tyr
XM_011529232.1:c.266G>A XP_011527534.1:p.Cys89Tyr
XM_011529233.1:c.266G>A XP_011527535.1:p.Cys89Tyr
XR_937068.1:n.338G>A
XR_937069.1:n.333G>A
XM_017027839.1:c.218G>A XP_016883328.1:p.Cys73Tyr
NM_001029871.4:c.218G>A MANE Select NP_001025042.2:p.Cys73Tyr
NM_001040007.3:c.218G>A NP_001035096.1:p.Cys73Tyr
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