Canonical Allele Identifier: CA1344644
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 2559110
ClinVar RCV Id: RCV003304994
dbSNP Id: rs765628670
ExAC: 1:204124214 G / T
gnomAD v2: 1-204124214-G-T
MyVariant Identifiers: chr1:g.204124214G>T (hg19) chr1:g.204155086G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204155086G>T , CM000663.2:g.204155086G>T GRCh38
NC_000001.10:g.204124214G>T , CM000663.1:g.204124214G>T GRCh37
NC_000001.9:g.202390837G>T NCBI36
NG_012122.1:g.16252C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.1151C>A MANE Select ENSP00000272190.8:p.Thr384Asn
ENST00000638118.1:c.1037C>A ENSP00000490307.1:p.Thr346Asn
ENST00000272190.8:c.1151C>A ENSP00000272190.8:p.Thr384Asn
NM_000537.3:c.1151C>A NP_000528.1:p.Thr384Asn
NM_000537.4:c.1151C>A MANE Select NP_000528.1:p.Thr384Asn
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