Canonical Allele Identifier: CA407970895

Gene: RSPO4

Linked Data

• gnomAD v4: 20-968091-C-A
• MyVariant Identifiers: chr20:g.948734C>A (hg19) ; chr20:g.968091C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.968091C>A , CM000682.2:g.968091C>A	GRCh38
NC_000020.10:g.948734C>A , CM000682.1:g.948734C>A	GRCh37
NC_000020.9:g.896734C>A	NCBI36
NG_013043.1:g.39174G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.127G>T MANE Select	ENSP00000217260.4:p.Glu43Ter
ENST00000217260.8:c.127G>T	ENSP00000217260.4:p.Glu43Ter
ENST00000400634.2:c.127G>T	ENSP00000383475.2:p.Glu43Ter
NM_001029871.3:c.127G>T	NP_001025042.2:p.Glu43Ter
NM_001040007.2:c.127G>T	NP_001035096.1:p.Glu43Ter
XM_011529232.1:c.175G>T	XP_011527534.1:p.Glu59Ter
XM_011529233.1:c.175G>T	XP_011527535.1:p.Glu59Ter
XR_937068.1:n.247G>T
XR_937069.1:n.242G>T
XM_017027839.1:c.127G>T	XP_016883328.1:p.Glu43Ter
NM_001029871.4:c.127G>T MANE Select	NP_001025042.2:p.Glu43Ter
NM_001040007.3:c.127G>T	NP_001035096.1:p.Glu43Ter