Canonical Allele Identifier: CA2674317150
Gene: CRHBP HGNC NCBI

Linked Data

gnomAD v4: 5-76968607-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76968607G>T , CM000667.2:g.76968607G>T GRCh38
NC_000005.9:g.76264432G>T , CM000667.1:g.76264432G>T GRCh37
NC_000005.8:g.76300188G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000274368.9:c.812-121G>T MANE Select ENSP00000274368.4:n.812-121G>T
ENST00000274368.8:c.812-121G>T ENSP00000274368.4:n.812-121G>T
ENST00000503763.1:n.227-121G>T
ENST00000514258.1:n.311+5147G>T
NM_001882.3:c.812-121G>T NP_001873.2:n.812-121G>T
XR_948235.1:n.1111+5147G>T
XR_948235.3:n.1091+5147G>T
NM_001882.4:c.812-121G>T MANE Select NP_001873.2:n.812-121G>T