Canonical Allele Identifier: CA1344895
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 1413950
ClinVar RCV Id: RCV001928428 RCV002507032
dbSNP Id: rs147436851
ExAC: 1:204128683 G / A
gnomAD v2: 1-204128683-G-A
gnomAD v3: 1-204159555-G-A
gnomAD v4: 1-204159555-G-A
MyVariant Identifiers: chr1:g.204128683G>A (hg19) chr1:g.204159555G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159555G>A , CM000663.2:g.204159555G>A GRCh38
NC_000001.10:g.204128683G>A , CM000663.1:g.204128683G>A GRCh37
NC_000001.9:g.202395306G>A NCBI36
NG_012122.1:g.11783C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.533C>T MANE Select ENSP00000272190.8:p.Thr178Met
ENST00000638118.1:c.419C>T ENSP00000490307.1:p.Thr140Met
ENST00000272190.8:c.533C>T ENSP00000272190.8:p.Thr178Met
NM_000537.3:c.533C>T NP_000528.1:p.Thr178Met
NM_000537.4:c.533C>T MANE Select NP_000528.1:p.Thr178Met
Search 100 bp 5'
Search 100 bp 3'