Canonical Allele Identifier: CA509343596

Gene: RSPO4

Linked Data

• gnomAD v4: 20-968035-T-C
• MyVariant Identifiers: chr20:g.948678T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.968035T>C , CM000682.2:g.968035T>C	GRCh38
NC_000020.10:g.948678T>C , CM000682.1:g.948678T>C	GRCh37
NC_000020.9:g.896678T>C	NCBI36
NG_013043.1:g.39230A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.183A>G MANE Select	ENSP00000217260.4:p.Glu61=
ENST00000217260.8:c.183A>G	ENSP00000217260.4:p.Glu61=
ENST00000400634.2:c.183A>G	ENSP00000383475.2:p.Glu61=
NM_001029871.3:c.183A>G	NP_001025042.2:p.Glu61=
NM_001040007.2:c.183A>G	NP_001035096.1:p.Glu61=
XM_011529232.1:c.231A>G	XP_011527534.1:p.Glu77=
XM_011529233.1:c.231A>G	XP_011527535.1:p.Glu77=
XR_937068.1:n.303A>G
XR_937069.1:n.298A>G
XM_017027839.1:c.183A>G	XP_016883328.1:p.Glu61=
NM_001029871.4:c.183A>G MANE Select	NP_001025042.2:p.Glu61=
NM_001040007.3:c.183A>G	NP_001035096.1:p.Glu61=