Canonical Allele Identifier: CA407970249

Gene: RSPO4

Linked Data

• gnomAD v4: 20-967970-T-C
• MyVariant Identifiers: chr20:g.948613T>C (hg19) ; chr20:g.967970T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967970T>C , CM000682.2:g.967970T>C	GRCh38
NC_000020.10:g.948613T>C , CM000682.1:g.948613T>C	GRCh37
NC_000020.9:g.896613T>C	NCBI36
NG_013043.1:g.39295A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.248A>G MANE Select	ENSP00000217260.4:p.Gln83Arg
ENST00000217260.8:c.248A>G	ENSP00000217260.4:p.Gln83Arg
ENST00000400634.2:c.248A>G	ENSP00000383475.2:p.Gln83Arg
NM_001029871.3:c.248A>G	NP_001025042.2:p.Gln83Arg
NM_001040007.2:c.248A>G	NP_001035096.1:p.Gln83Arg
XM_011529232.1:c.296A>G	XP_011527534.1:p.Gln99Arg
XM_011529233.1:c.296A>G	XP_011527535.1:p.Gln99Arg
XR_937068.1:n.368A>G
XR_937069.1:n.363A>G
XM_017027839.1:c.248A>G	XP_016883328.1:p.Gln83Arg
NM_001029871.4:c.248A>G MANE Select	NP_001025042.2:p.Gln83Arg
NM_001040007.3:c.248A>G	NP_001035096.1:p.Gln83Arg