Canonical Allele Identifier: CA14759921

Gene: RNF114

Linked Data

• dbSNP Id: rs2235617
• gnomAD v2: 20-48554977-C-G
• gnomAD v3: 20-49938440-C-G
• gnomAD v4: 20-49938440-C-G
• MyVariant Identifiers: chr20:g.48554977C>G (hg19) ; chr20:g.49938440C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49938440C>G , CM000682.2:g.49938440C>G	GRCh38
NC_000020.10:g.48554977C>G , CM000682.1:g.48554977C>G	GRCh37
NC_000020.9:g.47988384C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000244061.6:c.140+1888C>G MANE Select	ENSP00000244061.2:n.140+1888C>G
ENST00000244061.5:c.140+1888C>G	ENSP00000244061.2:n.140+1888C>G
ENST00000622920.1:c.140+1888C>G	ENSP00000485317.1:n.140+1888C>G
ENST00000622999.3:c.140+1888C>G	ENSP00000485203.1:n.140+1888C>G
ENST00000623528.3:c.140+1888C>G	ENSP00000485136.1:n.140+1888C>G
ENST00000623732.3:c.140+1888C>G	ENSP00000485575.1:n.140+1888C>G
ENST00000624620.1:n.154+1888C>G
ENST00000625177.3:c.140+1888C>G	ENSP00000485239.1:n.140+1888C>G
NM_018683.3:c.140+1888C>G	NP_061153.1:n.140+1888C>G
NM_018683.4:c.140+1888C>G MANE Select	NP_061153.1:n.140+1888C>G