Canonical Allele Identifier: CA2651557618
Gene: RSPO4 HGNC NCBI

Linked Data

gnomAD v4: 20-967818-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.967818C>G , CM000682.2:g.967818C>G GRCh38
NC_000020.10:g.948461C>G , CM000682.1:g.948461C>G GRCh37
NC_000020.9:g.896461C>G NCBI36
NG_013043.1:g.39447G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217260.9:c.268+132G>C MANE Select ENSP00000217260.4:n.268+132G>C
ENST00000217260.8:c.268+132G>C ENSP00000217260.4:n.268+132G>C
ENST00000400634.2:c.268+132G>C ENSP00000383475.2:n.268+132G>C
NM_001029871.3:c.268+132G>C NP_001025042.2:n.268+132G>C
NM_001040007.2:c.268+132G>C NP_001035096.1:n.268+132G>C
XM_011529232.1:c.316+132G>C XP_011527534.1:n.316+132G>C
XM_011529233.1:c.316+132G>C XP_011527535.1:n.316+132G>C
XR_937068.1:n.388+132G>C
XR_937069.1:n.383+132G>C
XM_017027839.1:c.268+132G>C XP_016883328.1:n.268+132G>C
NM_001029871.4:c.268+132G>C MANE Select NP_001025042.2:n.268+132G>C
NM_001040007.3:c.268+132G>C NP_001035096.1:n.268+132G>C