Canonical Allele Identifier: CA814093273
Gene: CRHBP HGNC NCBI

Linked Data

dbSNP Id: rs1379860249
gnomAD v3: 5-76968613-T-A
gnomAD v4: 5-76968613-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76968613T>A , CM000667.2:g.76968613T>A GRCh38
NC_000005.9:g.76264438T>A , CM000667.1:g.76264438T>A GRCh37
NC_000005.8:g.76300194T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274368.9:c.812-115T>A MANE Select ENSP00000274368.4:n.812-115T>A
ENST00000274368.8:c.812-115T>A ENSP00000274368.4:n.812-115T>A
ENST00000503763.1:n.227-115T>A
ENST00000514258.1:n.311+5153T>A
NM_001882.3:c.812-115T>A NP_001873.2:n.812-115T>A
XR_948235.1:n.1111+5153T>A
XR_948235.3:n.1091+5153T>A
NM_001882.4:c.812-115T>A MANE Select NP_001873.2:n.812-115T>A