Canonical Allele Identifier: CA315151108

Gene: RNF114

Linked Data

• dbSNP Id: rs1014436376
• gnomAD v3: 20-49938092-G-A
• gnomAD v4: 20-49938092-G-A
• MyVariant Identifiers: chr20:g.48554629G>A (hg19) ; chr20:g.49938092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49938092G>A , CM000682.2:g.49938092G>A	GRCh38
NC_000020.10:g.48554629G>A , CM000682.1:g.48554629G>A	GRCh37
NC_000020.9:g.47988036G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244061.6:c.140+1540G>A MANE Select	ENSP00000244061.2:n.140+1540G>A
ENST00000244061.5:c.140+1540G>A	ENSP00000244061.2:n.140+1540G>A
ENST00000622920.1:c.140+1540G>A	ENSP00000485317.1:n.140+1540G>A
ENST00000622999.3:c.140+1540G>A	ENSP00000485203.1:n.140+1540G>A
ENST00000623528.3:c.140+1540G>A	ENSP00000485136.1:n.140+1540G>A
ENST00000623732.3:c.140+1540G>A	ENSP00000485575.1:n.140+1540G>A
ENST00000624620.1:n.154+1540G>A
ENST00000625177.3:c.140+1540G>A	ENSP00000485239.1:n.140+1540G>A
NM_018683.3:c.140+1540G>A	NP_061153.1:n.140+1540G>A
NM_018683.4:c.140+1540G>A MANE Select	NP_061153.1:n.140+1540G>A