Canonical Allele Identifier: CA143703
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 50210
ClinVar RCV Id: RCV000043472 RCV002496686
dbSNP Id: rs397514690
gnomAD v2: 1-204131263-G-A
gnomAD v3: 1-204162135-G-A
gnomAD v4: 1-204162135-G-A
MyVariant Identifiers: chr1:g.204131263G>A (hg19) chr1:g.204162135G>A (hg38)
PubMed: PMID:22095942
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204162135G>A , CM000663.2:g.204162135G>A GRCh38
NC_000001.10:g.204131263G>A , CM000663.1:g.204131263G>A GRCh37
NC_000001.9:g.202397886G>A NCBI36
NG_012122.1:g.9203C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.127C>T MANE Select ENSP00000272190.8:p.Arg43Ter
ENST00000638118.1:c.13C>T ENSP00000490307.1:p.Arg5Ter
ENST00000272190.8:c.127C>T ENSP00000272190.8:p.Arg43Ter
NM_000537.3:c.127C>T NP_000528.1:p.Arg43Ter
NM_000537.4:c.127C>T MANE Select NP_000528.1:p.Arg43Ter
Search 100 bp 5'
Search 100 bp 3'