Canonical Allele Identifier: CA407970375

Gene: RSPO4

Linked Data

• dbSNP Id: rs1415219174
• gnomAD v2: 20-948637-G-T
• MyVariant Identifiers: chr20:g.948637G>T (hg19) ; chr20:g.967994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967994G>T , CM000682.2:g.967994G>T	GRCh38
NC_000020.10:g.948637G>T , CM000682.1:g.948637G>T	GRCh37
NC_000020.9:g.896637G>T	NCBI36
NG_013043.1:g.39271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.224C>A MANE Select	ENSP00000217260.4:p.Pro75His
ENST00000217260.8:c.224C>A	ENSP00000217260.4:p.Pro75His
ENST00000400634.2:c.224C>A	ENSP00000383475.2:p.Pro75His
NM_001029871.3:c.224C>A	NP_001025042.2:p.Pro75His
NM_001040007.2:c.224C>A	NP_001035096.1:p.Pro75His
XM_011529232.1:c.272C>A	XP_011527534.1:p.Pro91His
XM_011529233.1:c.272C>A	XP_011527535.1:p.Pro91His
XR_937068.1:n.344C>A
XR_937069.1:n.339C>A
XM_017027839.1:c.224C>A	XP_016883328.1:p.Pro75His
NM_001029871.4:c.224C>A MANE Select	NP_001025042.2:p.Pro75His
NM_001040007.3:c.224C>A	NP_001035096.1:p.Pro75His