Canonical Allele Identifier: CA35734614
Gene: REN HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'