Canonical Allele Identifier: CA9725764

Gene: RSPO4

Linked Data

• dbSNP Id: rs764084804
• ExAC: 20:948700 A / T
• gnomAD v2: 20-948700-A-T
• gnomAD v3: 20-968057-A-T
• gnomAD v4: 20-968057-A-T
• MyVariant Identifiers: chr20:g.948700A>T (hg19) ; chr20:g.968057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.968057A>T , CM000682.2:g.968057A>T	GRCh38
NC_000020.10:g.948700A>T , CM000682.1:g.948700A>T	GRCh37
NC_000020.9:g.896700A>T	NCBI36
NG_013043.1:g.39208T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.161T>A MANE Select	ENSP00000217260.4:p.Leu54His
ENST00000217260.8:c.161T>A	ENSP00000217260.4:p.Leu54His
ENST00000400634.2:c.161T>A	ENSP00000383475.2:p.Leu54His
NM_001029871.3:c.161T>A	NP_001025042.2:p.Leu54His
NM_001040007.2:c.161T>A	NP_001035096.1:p.Leu54His
XM_011529232.1:c.209T>A	XP_011527534.1:p.Leu70His
XM_011529233.1:c.209T>A	XP_011527535.1:p.Leu70His
XR_937068.1:n.281T>A
XR_937069.1:n.276T>A
XM_017027839.1:c.161T>A	XP_016883328.1:p.Leu54His
NM_001029871.4:c.161T>A MANE Select	NP_001025042.2:p.Leu54His
NM_001040007.3:c.161T>A	NP_001035096.1:p.Leu54His