Canonical Allele Identifier: CA1344880
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs750220974
ExAC: 1:204128600 C / T
gnomAD v2: 1-204128600-C-T
gnomAD v3: 1-204159472-C-T
gnomAD v4: 1-204159472-C-T
MyVariant Identifiers: chr1:g.204128600C>T (hg19) chr1:g.204159472C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159472C>T , CM000663.2:g.204159472C>T GRCh38
NC_000001.10:g.204128600C>T , CM000663.1:g.204128600C>T GRCh37
NC_000001.9:g.202395223C>T NCBI36
NG_012122.1:g.11866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.616G>A MANE Select ENSP00000272190.8:p.Val206Ile
ENST00000638118.1:c.502G>A ENSP00000490307.1:p.Val168Ile
ENST00000272190.8:c.616G>A ENSP00000272190.8:p.Val206Ile
NM_000537.3:c.616G>A NP_000528.1:p.Val206Ile
NM_000537.4:c.616G>A MANE Select NP_000528.1:p.Val206Ile
Search 100 bp 5'
Search 100 bp 3'