Canonical Allele Identifier: CA3313961

Gene: CRHBP

Linked Data

• dbSNP Id: rs747551950
• ExAC: 5:76264544 C / T
• gnomAD v2: 5-76264544-C-T
• gnomAD v3: 5-76968719-C-T
• gnomAD v4: 5-76968719-C-T
• MyVariant Identifiers: chr5:g.76264544C>T (hg19) ; chr5:g.76968719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.76968719C>T , CM000667.2:g.76968719C>T	GRCh38
NC_000005.9:g.76264544C>T , CM000667.1:g.76264544C>T	GRCh37
NC_000005.8:g.76300300C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274368.9:c.812-9C>T MANE Select	ENSP00000274368.4:n.812-9C>T
ENST00000274368.8:c.812-9C>T	ENSP00000274368.4:n.812-9C>T
ENST00000503763.1:n.227-9C>T
ENST00000514258.1:n.311+5259C>T
NM_001882.3:c.812-9C>T	NP_001873.2:n.812-9C>T
XR_948235.1:n.1111+5259C>T
XR_948235.3:n.1091+5259C>T
NM_001882.4:c.812-9C>T MANE Select	NP_001873.2:n.812-9C>T