Canonical Allele Identifier: CA121059299
Gene: CRHBP HGNC NCBI

Linked Data

dbSNP Id: rs190629766
gnomAD v2: 5-76264437-A-G
gnomAD v3: 5-76968612-A-G
gnomAD v4: 5-76968612-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76968612A>G , CM000667.2:g.76968612A>G GRCh38
NC_000005.9:g.76264437A>G , CM000667.1:g.76264437A>G GRCh37
NC_000005.8:g.76300193A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000274368.9:c.812-116A>G MANE Select ENSP00000274368.4:n.812-116A>G
ENST00000274368.8:c.812-116A>G ENSP00000274368.4:n.812-116A>G
ENST00000503763.1:n.227-116A>G
ENST00000514258.1:n.311+5152A>G
NM_001882.3:c.812-116A>G NP_001873.2:n.812-116A>G
XR_948235.1:n.1111+5152A>G
XR_948235.3:n.1091+5152A>G
NM_001882.4:c.812-116A>G MANE Select NP_001873.2:n.812-116A>G