Canonical Allele Identifier: CA407970296

Gene: RSPO4

Linked Data

• dbSNP Id: rs1392720914
• gnomAD v2: 20-948623-T-A
• gnomAD v4: 20-967980-T-A
• MyVariant Identifiers: chr20:g.948623T>A (hg19) ; chr20:g.967980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967980T>A , CM000682.2:g.967980T>A	GRCh38
NC_000020.10:g.948623T>A , CM000682.1:g.948623T>A	GRCh37
NC_000020.9:g.896623T>A	NCBI36
NG_013043.1:g.39285A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.238A>T MANE Select	ENSP00000217260.4:p.Ile80Phe
ENST00000217260.8:c.238A>T	ENSP00000217260.4:p.Ile80Phe
ENST00000400634.2:c.238A>T	ENSP00000383475.2:p.Ile80Phe
NM_001029871.3:c.238A>T	NP_001025042.2:p.Ile80Phe
NM_001040007.2:c.238A>T	NP_001035096.1:p.Ile80Phe
XM_011529232.1:c.286A>T	XP_011527534.1:p.Ile96Phe
XM_011529233.1:c.286A>T	XP_011527535.1:p.Ile96Phe
XR_937068.1:n.358A>T
XR_937069.1:n.353A>T
XM_017027839.1:c.238A>T	XP_016883328.1:p.Ile80Phe
NM_001029871.4:c.238A>T MANE Select	NP_001025042.2:p.Ile80Phe
NM_001040007.3:c.238A>T	NP_001035096.1:p.Ile80Phe