Canonical Allele Identifier: CA1014681689
Gene: RSPO4 HGNC NCBI

Linked Data

dbSNP Id: rs1984263415
gnomAD v3: 20-967838-C-A
gnomAD v4: 20-967838-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.967838C>A , CM000682.2:g.967838C>A GRCh38
NC_000020.10:g.948481C>A , CM000682.1:g.948481C>A GRCh37
NC_000020.9:g.896481C>A NCBI36
NG_013043.1:g.39427G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217260.9:c.268+112G>T MANE Select ENSP00000217260.4:n.268+112G>T
ENST00000217260.8:c.268+112G>T ENSP00000217260.4:n.268+112G>T
ENST00000400634.2:c.268+112G>T ENSP00000383475.2:n.268+112G>T
NM_001029871.3:c.268+112G>T NP_001025042.2:n.268+112G>T
NM_001040007.2:c.268+112G>T NP_001035096.1:n.268+112G>T
XM_011529232.1:c.316+112G>T XP_011527534.1:n.316+112G>T
XM_011529233.1:c.316+112G>T XP_011527535.1:n.316+112G>T
XR_937068.1:n.388+112G>T
XR_937069.1:n.383+112G>T
XM_017027839.1:c.268+112G>T XP_016883328.1:n.268+112G>T
NM_001029871.4:c.268+112G>T MANE Select NP_001025042.2:n.268+112G>T
NM_001040007.3:c.268+112G>T NP_001035096.1:n.268+112G>T