Canonical Allele Identifier: CA121059234
Gene: CRHBP HGNC NCBI

Linked Data

dbSNP Id: rs926924038
gnomAD v2: 5-76264258-G-T
gnomAD v3: 5-76968433-G-T
gnomAD v4: 5-76968433-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76968433G>T , CM000667.2:g.76968433G>T GRCh38
NC_000005.9:g.76264258G>T , CM000667.1:g.76264258G>T GRCh37
NC_000005.8:g.76300014G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000274368.9:c.812-295G>T MANE Select ENSP00000274368.4:n.812-295G>T
ENST00000274368.8:c.812-295G>T ENSP00000274368.4:n.812-295G>T
ENST00000503763.1:n.227-295G>T
ENST00000514258.1:n.311+4973G>T
NM_001882.3:c.812-295G>T NP_001873.2:n.812-295G>T
XR_948235.1:n.1111+4973G>T
XR_948235.3:n.1091+4973G>T
NM_001882.4:c.812-295G>T MANE Select NP_001873.2:n.812-295G>T