Canonical Allele Identifier: CA35734553
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 2999371
ClinVar RCV Id: RCV003852002
dbSNP Id: rs1022198711
gnomAD v2: 1-204128579-T-C
gnomAD v4: 1-204159451-T-C
MyVariant Identifiers: chr1:g.204128579T>C (hg19) chr1:g.204159451T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159451T>C , CM000663.2:g.204159451T>C GRCh38
NC_000001.10:g.204128579T>C , CM000663.1:g.204128579T>C GRCh37
NC_000001.9:g.202395202T>C NCBI36
NG_012122.1:g.11887A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.637A>G MANE Select ENSP00000272190.8:p.Ile213Val
ENST00000638118.1:c.523A>G ENSP00000490307.1:p.Ile175Val
ENST00000272190.8:c.637A>G ENSP00000272190.8:p.Ile213Val
NM_000537.3:c.637A>G NP_000528.1:p.Ile213Val
NM_000537.4:c.637A>G MANE Select NP_000528.1:p.Ile213Val
Search 100 bp 5'
Search 100 bp 3'