Canonical Allele Identifier: CA1014681673
Gene: RSPO4 HGNC NCBI

Linked Data

gnomAD v3: 20-967802-T-A
gnomAD v4: 20-967802-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.967802T>A , CM000682.2:g.967802T>A GRCh38
NC_000020.10:g.948445T>A , CM000682.1:g.948445T>A GRCh37
NC_000020.9:g.896445T>A NCBI36
NG_013043.1:g.39463A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217260.9:c.268+148A>T MANE Select ENSP00000217260.4:n.268+148A>T
ENST00000217260.8:c.268+148A>T ENSP00000217260.4:n.268+148A>T
ENST00000400634.2:c.268+148A>T ENSP00000383475.2:n.268+148A>T
NM_001029871.3:c.268+148A>T NP_001025042.2:n.268+148A>T
NM_001040007.2:c.268+148A>T NP_001035096.1:n.268+148A>T
XM_011529232.1:c.316+148A>T XP_011527534.1:n.316+148A>T
XM_011529233.1:c.316+148A>T XP_011527535.1:n.316+148A>T
XR_937068.1:n.388+148A>T
XR_937069.1:n.383+148A>T
XM_017027839.1:c.268+148A>T XP_016883328.1:n.268+148A>T
NM_001029871.4:c.268+148A>T MANE Select NP_001025042.2:n.268+148A>T
NM_001040007.3:c.268+148A>T NP_001035096.1:n.268+148A>T