Canonical Allele Identifier: CA1344656
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 294950
ClinVar RCV Id: RCV000296847 RCV000402439 RCV003278747
dbSNP Id: rs774166976
ExAC: 1:204124289 T / A
gnomAD v2: 1-204124289-T-A
gnomAD v3: 1-204155161-T-A
gnomAD v4: 1-204155161-T-A
MyVariant Identifiers: chr1:g.204124289T>A (hg19) chr1:g.204155161T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204155161T>A , CM000663.2:g.204155161T>A GRCh38
NC_000001.10:g.204124289T>A , CM000663.1:g.204124289T>A GRCh37
NC_000001.9:g.202390912T>A NCBI36
NG_012122.1:g.16177A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.1076A>T MANE Select ENSP00000272190.8:p.Lys359Ile
ENST00000638118.1:c.962A>T ENSP00000490307.1:p.Lys321Ile
ENST00000272190.8:c.1076A>T ENSP00000272190.8:p.Lys359Ile
NM_000537.3:c.1076A>T NP_000528.1:p.Lys359Ile
NM_000537.4:c.1076A>T MANE Select NP_000528.1:p.Lys359Ile
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