Canonical Allele Identifier: CA310719398

Gene: RSPO4

Linked Data

• dbSNP Id: rs1049154986
• gnomAD v2: 20-948526-G-C
• gnomAD v3: 20-967883-G-C
• gnomAD v4: 20-967883-G-C
• MyVariant Identifiers: chr20:g.948526G>C (hg19) ; chr20:g.967883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967883G>C , CM000682.2:g.967883G>C	GRCh38
NC_000020.10:g.948526G>C , CM000682.1:g.948526G>C	GRCh37
NC_000020.9:g.896526G>C	NCBI36
NG_013043.1:g.39382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.268+67C>G MANE Select	ENSP00000217260.4:n.268+67C>G
ENST00000217260.8:c.268+67C>G	ENSP00000217260.4:n.268+67C>G
ENST00000400634.2:c.268+67C>G	ENSP00000383475.2:n.268+67C>G
NM_001029871.3:c.268+67C>G	NP_001025042.2:n.268+67C>G
NM_001040007.2:c.268+67C>G	NP_001035096.1:n.268+67C>G
XM_011529232.1:c.316+67C>G	XP_011527534.1:n.316+67C>G
XM_011529233.1:c.316+67C>G	XP_011527535.1:n.316+67C>G
XR_937068.1:n.388+67C>G
XR_937069.1:n.383+67C>G
XM_017027839.1:c.268+67C>G	XP_016883328.1:n.268+67C>G
NM_001029871.4:c.268+67C>G MANE Select	NP_001025042.2:n.268+67C>G
NM_001040007.3:c.268+67C>G	NP_001035096.1:n.268+67C>G