Canonical Allele Identifier: CA2674317193
Gene: CRHBP HGNC NCBI

Linked Data

gnomAD v4: 5-76968683-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76968683G>T , CM000667.2:g.76968683G>T GRCh38
NC_000005.9:g.76264508G>T , CM000667.1:g.76264508G>T GRCh37
NC_000005.8:g.76300264G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274368.9:c.812-45G>T MANE Select ENSP00000274368.4:n.812-45G>T
ENST00000274368.8:c.812-45G>T ENSP00000274368.4:n.812-45G>T
ENST00000503763.1:n.227-45G>T
ENST00000514258.1:n.311+5223G>T
NM_001882.3:c.812-45G>T NP_001873.2:n.812-45G>T
XR_948235.1:n.1111+5223G>T
XR_948235.3:n.1091+5223G>T
NM_001882.4:c.812-45G>T MANE Select NP_001873.2:n.812-45G>T