Canonical Allele Identifier: CA1344926

Gene: REN

Linked Data

• ClinVar Variation Id: 294958
• ClinVar RCV Id: RCV000334720 ; RCV000373042 ; RCV002522096
• dbSNP Id: rs548625937
• ExAC: 1:204129676 G / A
• gnomAD v2: 1-204129676-G-A
• gnomAD v3: 1-204160548-G-A
• gnomAD v4: 1-204160548-G-A
• MyVariant Identifiers: chr1:g.204129676G>A (hg19) ; chr1:g.204160548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204160548G>A , CM000663.2:g.204160548G>A	GRCh38
NC_000001.10:g.204129676G>A , CM000663.1:g.204129676G>A	GRCh37
NC_000001.9:g.202396299G>A	NCBI36
NG_012122.1:g.10790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.492+12C>T MANE Select	ENSP00000272190.8:n.492+12C>T
ENST00000638118.1:c.378+12C>T	ENSP00000490307.1:n.378+12C>T
ENST00000272190.8:c.492+12C>T	ENSP00000272190.8:n.492+12C>T
NM_000537.3:c.492+12C>T	NP_000528.1:n.492+12C>T
NM_000537.4:c.492+12C>T MANE Select	NP_000528.1:n.492+12C>T