Canonical Allele Identifier: CA1018235677

Gene: RNF114

Linked Data

• dbSNP Id: rs2090294954
• gnomAD v3: 20-49938213-C-T
• gnomAD v4: 20-49938213-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49938213C>T , CM000682.2:g.49938213C>T	GRCh38
NC_000020.10:g.48554750C>T , CM000682.1:g.48554750C>T	GRCh37
NC_000020.9:g.47988157C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244061.6:c.140+1661C>T MANE Select	ENSP00000244061.2:n.140+1661C>T
ENST00000244061.5:c.140+1661C>T	ENSP00000244061.2:n.140+1661C>T
ENST00000622920.1:c.140+1661C>T	ENSP00000485317.1:n.140+1661C>T
ENST00000622999.3:c.140+1661C>T	ENSP00000485203.1:n.140+1661C>T
ENST00000623528.3:c.140+1661C>T	ENSP00000485136.1:n.140+1661C>T
ENST00000623732.3:c.140+1661C>T	ENSP00000485575.1:n.140+1661C>T
ENST00000624620.1:n.154+1661C>T
ENST00000625177.3:c.140+1661C>T	ENSP00000485239.1:n.140+1661C>T
NM_018683.3:c.140+1661C>T	NP_061153.1:n.140+1661C>T
NM_018683.4:c.140+1661C>T MANE Select	NP_061153.1:n.140+1661C>T