Canonical Allele Identifier: CA1345045

Gene: REN

Linked Data

• ClinVar Variation Id: 1941194
• ClinVar RCV Id: RCV002643015
• dbSNP Id: rs367565954
• ExAC: 1:204131225 C / A
• gnomAD v2: 1-204131225-C-A
• gnomAD v3: 1-204162097-C-A
• gnomAD v4: 1-204162097-C-A
• MyVariant Identifiers: chr1:g.204131225C>A (hg19) ; chr1:g.204162097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204162097C>A , CM000663.2:g.204162097C>A	GRCh38
NC_000001.10:g.204131225C>A , CM000663.1:g.204131225C>A	GRCh37
NC_000001.9:g.202397848C>A	NCBI36
NG_012122.1:g.9241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.165G>T MANE Select	ENSP00000272190.8:p.Arg55Ser
ENST00000638118.1:c.51G>T	ENSP00000490307.1:p.Arg17Ser
ENST00000272190.8:c.165G>T	ENSP00000272190.8:p.Arg55Ser
NM_000537.3:c.165G>T	NP_000528.1:p.Arg55Ser
NM_000537.4:c.165G>T MANE Select	NP_000528.1:p.Arg55Ser