Canonical Allele Identifier: CA9725777

Gene: RSPO4

Linked Data

• dbSNP Id: rs747212538
• ExAC: 20:948747 A / G
• gnomAD v2: 20-948747-A-G
• gnomAD v4: 20-968104-A-G
• MyVariant Identifiers: chr20:g.948747A>G (hg19) ; chr20:g.968104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.968104A>G , CM000682.2:g.968104A>G	GRCh38
NC_000020.10:g.948747A>G , CM000682.1:g.948747A>G	GRCh37
NC_000020.9:g.896747A>G	NCBI36
NG_013043.1:g.39161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.114T>C MANE Select	ENSP00000217260.4:p.Cys38=
ENST00000217260.8:c.114T>C	ENSP00000217260.4:p.Cys38=
ENST00000400634.2:c.114T>C	ENSP00000383475.2:p.Cys38=
NM_001029871.3:c.114T>C	NP_001025042.2:p.Cys38=
NM_001040007.2:c.114T>C	NP_001035096.1:p.Cys38=
XM_011529232.1:c.162T>C	XP_011527534.1:p.Cys54=
XM_011529233.1:c.162T>C	XP_011527535.1:p.Cys54=
XR_937068.1:n.234T>C
XR_937069.1:n.229T>C
XM_017027839.1:c.114T>C	XP_016883328.1:p.Cys38=
NM_001029871.4:c.114T>C MANE Select	NP_001025042.2:p.Cys38=
NM_001040007.3:c.114T>C	NP_001035096.1:p.Cys38=