Canonical Allele Identifier: CA1345025
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs777778258
ExAC: 1:204131164 C / T
gnomAD v2: 1-204131164-C-T
gnomAD v4: 1-204162036-C-T
COSMIC: COSM39545
MyVariant Identifiers: chr1:g.204131164C>T (hg19) chr1:g.204162036C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204162036C>T , CM000663.2:g.204162036C>T GRCh38
NC_000001.10:g.204131164C>T , CM000663.1:g.204131164C>T GRCh37
NC_000001.9:g.202397787C>T NCBI36
NG_012122.1:g.9302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.226G>A MANE Select ENSP00000272190.8:p.Val76Met
ENST00000638118.1:c.112G>A ENSP00000490307.1:p.Val38Met
ENST00000272190.8:c.226G>A ENSP00000272190.8:p.Val76Met
NM_000537.3:c.226G>A NP_000528.1:p.Val76Met
NM_000537.4:c.226G>A MANE Select NP_000528.1:p.Val76Met
Search 100 bp 5'
Search 100 bp 3'