Canonical Allele Identifier: CA310719436

Gene: RSPO4

Linked Data

• dbSNP Id: rs774766042
• gnomAD v2: 20-948585-C-G
• gnomAD v3: 20-967942-C-G
• gnomAD v4: 20-967942-C-G
• MyVariant Identifiers: chr20:g.948585C>G (hg19) ; chr20:g.967942C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967942C>G , CM000682.2:g.967942C>G	GRCh38
NC_000020.10:g.948585C>G , CM000682.1:g.948585C>G	GRCh37
NC_000020.9:g.896585C>G	NCBI36
NG_013043.1:g.39323G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.268+8G>C MANE Select	ENSP00000217260.4:n.268+8G>C
ENST00000217260.8:c.268+8G>C	ENSP00000217260.4:n.268+8G>C
ENST00000400634.2:c.268+8G>C	ENSP00000383475.2:n.268+8G>C
NM_001029871.3:c.268+8G>C	NP_001025042.2:n.268+8G>C
NM_001040007.2:c.268+8G>C	NP_001035096.1:n.268+8G>C
XM_011529232.1:c.316+8G>C	XP_011527534.1:n.316+8G>C
XM_011529233.1:c.316+8G>C	XP_011527535.1:n.316+8G>C
XR_937068.1:n.388+8G>C
XR_937069.1:n.383+8G>C
XM_017027839.1:c.268+8G>C	XP_016883328.1:n.268+8G>C
NM_001029871.4:c.268+8G>C MANE Select	NP_001025042.2:n.268+8G>C
NM_001040007.3:c.268+8G>C	NP_001035096.1:n.268+8G>C