Canonical Allele Identifier: CA35734614

Gene: REN

Linked Data

• ClinVar Variation Id: 2903965
• ClinVar RCV Id: RCV003726978
• dbSNP Id: rs985476332
• gnomAD v2: 1-204128692-C-A
• gnomAD v3: 1-204159564-C-A
• gnomAD v4: 1-204159564-C-A
• MyVariant Identifiers: chr1:g.204128692C>A (hg19) ; chr1:g.204159564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159564C>A , CM000663.2:g.204159564C>A	GRCh38
NC_000001.10:g.204128692C>A , CM000663.1:g.204128692C>A	GRCh37
NC_000001.9:g.202395315C>A	NCBI36
NG_012122.1:g.11774G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.524G>T MANE Select	ENSP00000272190.8:p.Gly175Val
ENST00000638118.1:c.410G>T	ENSP00000490307.1:p.Gly137Val
ENST00000272190.8:c.524G>T	ENSP00000272190.8:p.Gly175Val
NM_000537.3:c.524G>T	NP_000528.1:p.Gly175Val
NM_000537.4:c.524G>T MANE Select	NP_000528.1:p.Gly175Val