Canonical Allele Identifier: CA344337962
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1658205257
gnomAD v3: 1-204159463-T-C
gnomAD v4: 1-204159463-T-C
MyVariant Identifiers: chr1:g.204128591T>C (hg19) chr1:g.204159463T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159463T>C , CM000663.2:g.204159463T>C GRCh38
NC_000001.10:g.204128591T>C , CM000663.1:g.204128591T>C GRCh37
NC_000001.9:g.202395214T>C NCBI36
NG_012122.1:g.11875A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.625A>G MANE Select ENSP00000272190.8:p.Ile209Val
ENST00000638118.1:c.511A>G ENSP00000490307.1:p.Ile171Val
ENST00000272190.8:c.625A>G ENSP00000272190.8:p.Ile209Val
NM_000537.3:c.625A>G NP_000528.1:p.Ile209Val
NM_000537.4:c.625A>G MANE Select NP_000528.1:p.Ile209Val
Search 100 bp 5'
Search 100 bp 3'