Canonical Allele Identifier: CA344341511
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 1715610
ClinVar RCV Id: RCV002301362
gnomAD v4: 1-204162026-G-A
MyVariant Identifiers: chr1:g.204131154G>A (hg19) chr1:g.204162026G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204162026G>A , CM000663.2:g.204162026G>A GRCh38
NC_000001.10:g.204131154G>A , CM000663.1:g.204131154G>A GRCh37
NC_000001.9:g.202397777G>A NCBI36
NG_012122.1:g.9312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.236C>T MANE Select ENSP00000272190.8:p.Thr79Ile
ENST00000638118.1:c.122C>T ENSP00000490307.1:p.Thr41Ile
ENST00000272190.8:c.236C>T ENSP00000272190.8:p.Thr79Ile
NM_000537.3:c.236C>T NP_000528.1:p.Thr79Ile
NM_000537.4:c.236C>T MANE Select NP_000528.1:p.Thr79Ile
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