Canonical Allele Identifier: CA1345089
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 294964
ClinVar RCV Id: RCV000318852 RCV000375769 RCV000888904 RCV001820849 RCV002294249 RCV003910075
dbSNP Id: rs61746500
ExAC: 1:204135400 G / C
gnomAD v2: 1-204135400-G-C
gnomAD v3: 1-204166272-G-C
gnomAD v4: 1-204166272-G-C
MyVariant Identifiers: chr1:g.204135400G>C (hg19) chr1:g.204166272G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204166272G>C , CM000663.2:g.204166272G>C GRCh38
NC_000001.10:g.204135400G>C , CM000663.1:g.204135400G>C GRCh37
NC_000001.9:g.202402023G>C NCBI36
NG_012122.1:g.5066C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.22C>G MANE Select ENSP00000272190.8:p.Pro8Ala
ENST00000638118.1:c.-16-4109C>G ENSP00000490307.1:n.-16-4109C>G
ENST00000272190.8:c.22C>G ENSP00000272190.8:p.Pro8Ala
NM_000537.3:c.22C>G NP_000528.1:p.Pro8Ala
NM_000537.4:c.22C>G MANE Select NP_000528.1:p.Pro8Ala
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