Canonical Allele Identifier: CA1344872
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 294956
ClinVar RCV Id: RCV000286923 RCV000320838 RCV000955276 RCV002294247
dbSNP Id: rs11571117
ExAC: 1:204128567 C / T
gnomAD v2: 1-204128567-C-T
gnomAD v3: 1-204159439-C-T
gnomAD v4: 1-204159439-C-T
MyVariant Identifiers: chr1:g.204128567C>T (hg19) chr1:g.204159439C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159439C>T , CM000663.2:g.204159439C>T GRCh38
NC_000001.10:g.204128567C>T , CM000663.1:g.204128567C>T GRCh37
NC_000001.9:g.202395190C>T NCBI36
NG_012122.1:g.11899G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.649G>A MANE Select ENSP00000272190.8:p.Gly217Arg
ENST00000638118.1:c.535G>A ENSP00000490307.1:p.Gly179Arg
ENST00000272190.8:c.649G>A ENSP00000272190.8:p.Gly217Arg
NM_000537.3:c.649G>A NP_000528.1:p.Gly217Arg
NM_000537.4:c.649G>A MANE Select NP_000528.1:p.Gly217Arg
Search 100 bp 5'
Search 100 bp 3'