Canonical Allele Identifier: CA315151167

Gene: RNF114

Linked Data

• dbSNP Id: rs181933787
• gnomAD v3: 20-49938156-T-C
• gnomAD v4: 20-49938156-T-C
• MyVariant Identifiers: chr20:g.48554693T>C (hg19) ; chr20:g.49938156T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49938156T>C , CM000682.2:g.49938156T>C	GRCh38
NC_000020.10:g.48554693T>C , CM000682.1:g.48554693T>C	GRCh37
NC_000020.9:g.47988100T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244061.6:c.140+1604T>C MANE Select	ENSP00000244061.2:n.140+1604T>C
ENST00000244061.5:c.140+1604T>C	ENSP00000244061.2:n.140+1604T>C
ENST00000622920.1:c.140+1604T>C	ENSP00000485317.1:n.140+1604T>C
ENST00000622999.3:c.140+1604T>C	ENSP00000485203.1:n.140+1604T>C
ENST00000623528.3:c.140+1604T>C	ENSP00000485136.1:n.140+1604T>C
ENST00000623732.3:c.140+1604T>C	ENSP00000485575.1:n.140+1604T>C
ENST00000624620.1:n.154+1604T>C
ENST00000625177.3:c.140+1604T>C	ENSP00000485239.1:n.140+1604T>C
NM_018683.3:c.140+1604T>C	NP_061153.1:n.140+1604T>C
NM_018683.4:c.140+1604T>C MANE Select	NP_061153.1:n.140+1604T>C