Canonical Allele Identifier: CA9725765
Gene: RSPO4 HGNC NCBI

Linked Data

dbSNP Id: rs371949198
gnomAD v2: 20-948702-C-G
gnomAD v4: 20-968059-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.968059C>G , CM000682.2:g.968059C>G GRCh38
NC_000020.10:g.948702C>G , CM000682.1:g.948702C>G GRCh37
NC_000020.9:g.896702C>G NCBI36
NG_013043.1:g.39206G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217260.9:c.159G>C MANE Select ENSP00000217260.4:p.Arg53Ser
ENST00000217260.8:c.159G>C ENSP00000217260.4:p.Arg53Ser
ENST00000400634.2:c.159G>C ENSP00000383475.2:p.Arg53Ser
NM_001029871.3:c.159G>C NP_001025042.2:p.Arg53Ser
NM_001040007.2:c.159G>C NP_001035096.1:p.Arg53Ser
XM_011529232.1:c.207G>C XP_011527534.1:p.Arg69Ser
XM_011529233.1:c.207G>C XP_011527535.1:p.Arg69Ser
XR_937068.1:n.279G>C
XR_937069.1:n.274G>C
XM_017027839.1:c.159G>C XP_016883328.1:p.Arg53Ser
NM_001029871.4:c.159G>C MANE Select NP_001025042.2:p.Arg53Ser
NM_001040007.3:c.159G>C NP_001035096.1:p.Arg53Ser