Canonical Allele Identifier: CA407970362
Gene: RSPO4 HGNC NCBI

Linked Data

dbSNP Id: rs1349591658
gnomAD v3: 20-967992-C-T
gnomAD v4: 20-967992-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.967992C>T , CM000682.2:g.967992C>T GRCh38
NC_000020.10:g.948635C>T , CM000682.1:g.948635C>T GRCh37
NC_000020.9:g.896635C>T NCBI36
NG_013043.1:g.39273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217260.9:c.226G>A MANE Select ENSP00000217260.4:p.Gly76Arg
ENST00000217260.8:c.226G>A ENSP00000217260.4:p.Gly76Arg
ENST00000400634.2:c.226G>A ENSP00000383475.2:p.Gly76Arg
NM_001029871.3:c.226G>A NP_001025042.2:p.Gly76Arg
NM_001040007.2:c.226G>A NP_001035096.1:p.Gly76Arg
XM_011529232.1:c.274G>A XP_011527534.1:p.Gly92Arg
XM_011529233.1:c.274G>A XP_011527535.1:p.Gly92Arg
XR_937068.1:n.346G>A
XR_937069.1:n.341G>A
XM_017027839.1:c.226G>A XP_016883328.1:p.Gly76Arg
NM_001029871.4:c.226G>A MANE Select NP_001025042.2:p.Gly76Arg
NM_001040007.3:c.226G>A NP_001035096.1:p.Gly76Arg