Canonical Allele Identifier: CA1344656

Gene: REN

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)

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