Canonical Allele Identifier: CA10698434
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 1249555
ClinVar RCV Id: RCV001657076
dbSNP Id: rs1464816
gnomAD v2: 1-204128854-T-G
gnomAD v3: 1-204159726-T-G
gnomAD v4: 1-204159726-T-G
MyVariant Identifiers: chr1:g.204128854T>G (hg19) chr1:g.204159726T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159726T>G , CM000663.2:g.204159726T>G GRCh38
NC_000001.10:g.204128854T>G , CM000663.1:g.204128854T>G GRCh37
NC_000001.9:g.202395477T>G NCBI36
NG_012122.1:g.11612A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.493-131A>C MANE Select ENSP00000272190.8:n.493-131A>C
ENST00000638118.1:c.379-131A>C ENSP00000490307.1:n.379-131A>C
ENST00000272190.8:c.493-131A>C ENSP00000272190.8:n.493-131A>C
NM_000537.3:c.493-131A>C NP_000528.1:n.493-131A>C
NM_000537.4:c.493-131A>C MANE Select NP_000528.1:n.493-131A>C
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