Canonical Allele Identifier: CA2674317144
Gene: CRHBP HGNC NCBI

Linked Data

gnomAD v4: 5-76968600-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76968600T>G , CM000667.2:g.76968600T>G GRCh38
NC_000005.9:g.76264425T>G , CM000667.1:g.76264425T>G GRCh37
NC_000005.8:g.76300181T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000274368.9:c.812-128T>G MANE Select ENSP00000274368.4:n.812-128T>G
ENST00000274368.8:c.812-128T>G ENSP00000274368.4:n.812-128T>G
ENST00000503763.1:n.227-128T>G
ENST00000514258.1:n.311+5140T>G
NM_001882.3:c.812-128T>G NP_001873.2:n.812-128T>G
XR_948235.1:n.1111+5140T>G
XR_948235.3:n.1091+5140T>G
NM_001882.4:c.812-128T>G MANE Select NP_001873.2:n.812-128T>G