Canonical Allele Identifier: CA2651557611
Gene: RSPO4 HGNC NCBI

Linked Data

gnomAD v4: 20-967815-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.967815A>G , CM000682.2:g.967815A>G GRCh38
NC_000020.10:g.948458A>G , CM000682.1:g.948458A>G GRCh37
NC_000020.9:g.896458A>G NCBI36
NG_013043.1:g.39450T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217260.9:c.268+135T>C MANE Select ENSP00000217260.4:n.268+135T>C
ENST00000217260.8:c.268+135T>C ENSP00000217260.4:n.268+135T>C
ENST00000400634.2:c.268+135T>C ENSP00000383475.2:n.268+135T>C
NM_001029871.3:c.268+135T>C NP_001025042.2:n.268+135T>C
NM_001040007.2:c.268+135T>C NP_001035096.1:n.268+135T>C
XM_011529232.1:c.316+135T>C XP_011527534.1:n.316+135T>C
XM_011529233.1:c.316+135T>C XP_011527535.1:n.316+135T>C
XR_937068.1:n.388+135T>C
XR_937069.1:n.383+135T>C
XM_017027839.1:c.268+135T>C XP_016883328.1:n.268+135T>C
NM_001029871.4:c.268+135T>C MANE Select NP_001025042.2:n.268+135T>C
NM_001040007.3:c.268+135T>C NP_001035096.1:n.268+135T>C