Canonical Allele Identifier: CA122846

Gene: REN

Linked Data

• ClinVar Variation Id: 13123
• ClinVar RCV Id: RCV000014003 ; RCV001281274 ; RCV002496353
• dbSNP Id: rs121917741
• ExAC: 1:204131245 G / A
• gnomAD v2: 1-204131245-G-A
• gnomAD v3: 1-204162117-G-A
• gnomAD v4: 1-204162117-G-A
• MyVariant Identifiers: chr1:g.204131245G>A (hg19) ; chr1:g.204162117G>A (hg38)
• PubMed: PMID:16116425

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204162117G>A , CM000663.2:g.204162117G>A	GRCh38
NC_000001.10:g.204131245G>A , CM000663.1:g.204131245G>A	GRCh37
NC_000001.9:g.202397868G>A	NCBI36
NG_012122.1:g.9221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.145C>T MANE Select	ENSP00000272190.8:p.Arg49Ter
ENST00000638118.1:c.31C>T	ENSP00000490307.1:p.Arg11Ter
ENST00000272190.8:c.145C>T	ENSP00000272190.8:p.Arg49Ter
NM_000537.3:c.145C>T	NP_000528.1:p.Arg49Ter
NM_000537.4:c.145C>T MANE Select	NP_000528.1:p.Arg49Ter