Canonical Allele Identifier: CA509343639

Gene: RSPO4

Linked Data

• gnomAD v4: 20-968077-A-G
• MyVariant Identifiers: chr20:g.948720A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.968077A>G , CM000682.2:g.968077A>G	GRCh38
NC_000020.10:g.948720A>G , CM000682.1:g.948720A>G	GRCh37
NC_000020.9:g.896720A>G	NCBI36
NG_013043.1:g.39188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.141T>C MANE Select	ENSP00000217260.4:p.Cys47=
ENST00000217260.8:c.141T>C	ENSP00000217260.4:p.Cys47=
ENST00000400634.2:c.141T>C	ENSP00000383475.2:p.Cys47=
NM_001029871.3:c.141T>C	NP_001025042.2:p.Cys47=
NM_001040007.2:c.141T>C	NP_001035096.1:p.Cys47=
XM_011529232.1:c.189T>C	XP_011527534.1:p.Cys63=
XM_011529233.1:c.189T>C	XP_011527535.1:p.Cys63=
XR_937068.1:n.261T>C
XR_937069.1:n.256T>C
XM_017027839.1:c.141T>C	XP_016883328.1:p.Cys47=
NM_001029871.4:c.141T>C MANE Select	NP_001025042.2:p.Cys47=
NM_001040007.3:c.141T>C	NP_001035096.1:p.Cys47=