Canonical Allele Identifier: CA9725735

Gene: RSPO4

Linked Data

• dbSNP Id: rs542994015
• ExAC: 20:948626 C / T
• gnomAD v2: 20-948626-C-T
• gnomAD v3: 20-967983-C-T
• gnomAD v4: 20-967983-C-T
• MyVariant Identifiers: chr20:g.948626C>T (hg19) ; chr20:g.967983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967983C>T , CM000682.2:g.967983C>T	GRCh38
NC_000020.10:g.948626C>T , CM000682.1:g.948626C>T	GRCh37
NC_000020.9:g.896626C>T	NCBI36
NG_013043.1:g.39282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.235G>A MANE Select	ENSP00000217260.4:p.Gly79Ser
ENST00000217260.8:c.235G>A	ENSP00000217260.4:p.Gly79Ser
ENST00000400634.2:c.235G>A	ENSP00000383475.2:p.Gly79Ser
NM_001029871.3:c.235G>A	NP_001025042.2:p.Gly79Ser
NM_001040007.2:c.235G>A	NP_001035096.1:p.Gly79Ser
XM_011529232.1:c.283G>A	XP_011527534.1:p.Gly95Ser
XM_011529233.1:c.283G>A	XP_011527535.1:p.Gly95Ser
XR_937068.1:n.355G>A
XR_937069.1:n.350G>A
XM_017027839.1:c.235G>A	XP_016883328.1:p.Gly79Ser
NM_001029871.4:c.235G>A MANE Select	NP_001025042.2:p.Gly79Ser
NM_001040007.3:c.235G>A	NP_001035096.1:p.Gly79Ser