Canonical Allele Identifier: CA344332210
Gene: REN HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.204155053C>T
GRCh37 chr1:g.204124181C>T
Revel Score:
ENST00000367195 0.352
ENST00000545733 0.352
ENST00000272190 (MANE Select) 0.352
gnomAD v4:
chr1-204155053-C-T
Joint Max Group AF 0.00001773 (EAS)
Exomes Max Group AF 0.00002003 (EAS)
ClinVar Allele:
2794277
ClinVar RCV:
RCV003348538
ClinVar Variation:
2626755
dbSNP:
772034401
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204155053C>T , CM000663.2:g.204155053C>T GRCh38
NC_000001.10:g.204124181C>T , CM000663.1:g.204124181C>T GRCh37
NC_000001.9:g.202390804C>T NCBI36
NG_012122.1:g.16285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.1184G>A MANE Select ENSP00000272190.8:p.Arg395Gln
ENST00000638118.1:c.1070G>A ENSP00000490307.1:p.Arg357Gln
ENST00000272190.8:c.1184G>A ENSP00000272190.8:p.Arg395Gln
NM_000537.3:c.1184G>A NP_000528.1:p.Arg395Gln
NM_000537.4:c.1184G>A MANE Select NP_000528.1:p.Arg395Gln
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