Canonical Allele Identifier: CA10608796

Gene: REN

Linked Data

• ClinVar Variation Id: 294963
• ClinVar RCV Id: RCV000266537 ; RCV000305365 ; RCV002494915 ; RCV003546500 ; RCV003957541 ; RCV004021415
• dbSNP Id: rs886045835
• gnomAD v2: 1-204130526-C-A
• gnomAD v3: 1-204161398-C-A
• gnomAD v4: 1-204161398-C-A
• MyVariant Identifiers: chr1:g.204130526C>A (hg19) ; chr1:g.204161398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204161398C>A , CM000663.2:g.204161398C>A	GRCh38
NC_000001.10:g.204130526C>A , CM000663.1:g.204130526C>A	GRCh37
NC_000001.9:g.202397149C>A	NCBI36
NG_012122.1:g.9940G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.267G>T MANE Select	ENSP00000272190.8:p.Glu89Asp
ENST00000638118.1:c.153G>T	ENSP00000490307.1:p.Glu51Asp
ENST00000272190.8:c.267G>T	ENSP00000272190.8:p.Glu89Asp
NM_000537.3:c.267G>T	NP_000528.1:p.Glu89Asp
NM_000537.4:c.267G>T MANE Select	NP_000528.1:p.Glu89Asp