Canonical Allele Identifier: CA9725743

Gene: RSPO4

Linked Data

• dbSNP Id: rs773450068
• ExAC: 20:948650 G / T
• gnomAD v2: 20-948650-G-T
• gnomAD v3: 20-968007-G-T
• gnomAD v4: 20-968007-G-T
• MyVariant Identifiers: chr20:g.948650G>T (hg19) ; chr20:g.968007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.968007G>T , CM000682.2:g.968007G>T	GRCh38
NC_000020.10:g.948650G>T , CM000682.1:g.948650G>T	GRCh37
NC_000020.9:g.896650G>T	NCBI36
NG_013043.1:g.39258C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.211C>A MANE Select	ENSP00000217260.4:p.His71Asn
ENST00000217260.8:c.211C>A	ENSP00000217260.4:p.His71Asn
ENST00000400634.2:c.211C>A	ENSP00000383475.2:p.His71Asn
NM_001029871.3:c.211C>A	NP_001025042.2:p.His71Asn
NM_001040007.2:c.211C>A	NP_001035096.1:p.His71Asn
XM_011529232.1:c.259C>A	XP_011527534.1:p.His87Asn
XM_011529233.1:c.259C>A	XP_011527535.1:p.His87Asn
XR_937068.1:n.331C>A
XR_937069.1:n.326C>A
XM_017027839.1:c.211C>A	XP_016883328.1:p.His71Asn
NM_001029871.4:c.211C>A MANE Select	NP_001025042.2:p.His71Asn
NM_001040007.3:c.211C>A	NP_001035096.1:p.His71Asn