Canonical Allele Identifier: CA15094697
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 1269555
ClinVar RCV Id: RCV001681188
dbSNP Id: rs76834242
gnomAD v2: 1-204159359-C-T
gnomAD v3: 1-204190231-C-T
gnomAD v4: 1-204190231-C-T
MyVariant Identifiers: chr1:g.204159359C>T (hg19) chr1:g.204190231C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204190231C>T , CM000663.2:g.204190231C>T GRCh38
NC_000001.10:g.204159359C>T , CM000663.1:g.204159359C>T GRCh37
NC_000001.9:g.202425982C>T NCBI36
NG_032151.1:g.11261G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000638118.1:c.-211+1G>A ENSP00000490307.1:n.-211+1G>A
Search 100 bp 5'
Search 100 bp 3'