Canonical Allele Identifier: CA1345089

Gene: REN

Linked Data

• ClinVar Variation Id: 294964
• ClinVar RCV Id: RCV000318852 ; RCV000375769 ; RCV000888904 ; RCV001820849 ; RCV002294249 ; RCV003910075
• dbSNP Id: rs61746500
• ExAC: 1:204135400 G / C
• gnomAD v2: 1-204135400-G-C
• gnomAD v3: 1-204166272-G-C
• gnomAD v4: 1-204166272-G-C
• MyVariant Identifiers: chr1:g.204135400G>C (hg19) ; chr1:g.204166272G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204166272G>C , CM000663.2:g.204166272G>C	GRCh38
NC_000001.10:g.204135400G>C , CM000663.1:g.204135400G>C	GRCh37
NC_000001.9:g.202402023G>C	NCBI36
NG_012122.1:g.5066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.22C>G MANE Select	ENSP00000272190.8:p.Pro8Ala
ENST00000638118.1:c.-16-4109C>G	ENSP00000490307.1:n.-16-4109C>G
ENST00000272190.8:c.22C>G	ENSP00000272190.8:p.Pro8Ala
NM_000537.3:c.22C>G	NP_000528.1:p.Pro8Ala
NM_000537.4:c.22C>G MANE Select	NP_000528.1:p.Pro8Ala