Canonical Allele Identifier: CA344338014
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 1712426
ClinVar RCV Id: RCV002294681
dbSNP Id: rs1156882578
gnomAD v2: 1-204128602-C-T
gnomAD v4: 1-204159474-C-T
COSMIC: COSM6444073
MyVariant Identifiers: chr1:g.204128602C>T (hg19) chr1:g.204159474C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159474C>T , CM000663.2:g.204159474C>T GRCh38
NC_000001.10:g.204128602C>T , CM000663.1:g.204128602C>T GRCh37
NC_000001.9:g.202395225C>T NCBI36
NG_012122.1:g.11864G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.614G>A MANE Select ENSP00000272190.8:p.Arg205Lys
ENST00000638118.1:c.500G>A ENSP00000490307.1:p.Arg167Lys
ENST00000272190.8:c.614G>A ENSP00000272190.8:p.Arg205Lys
NM_000537.3:c.614G>A NP_000528.1:p.Arg205Lys
NM_000537.4:c.614G>A MANE Select NP_000528.1:p.Arg205Lys
Search 100 bp 5'
Search 100 bp 3'