Canonical Allele Identifier: CA12170239
Gene: CRHBP HGNC NCBI
dbSNP:
10062367
gnomAD v2:
5:76264354 G / A
gnomAD v3:
5:76968529 G / A
gnomAD v4:
chr5-76968529-G-A
Joint Max Group AF 0.36754673 (AFR)
Genomes Max Group AF 0.36754673 (AFR)
MyVariant.info:
GRCh38 chr5:g.76968529G>A
GRCh37 chr5:g.76264354G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76968529G>A , CM000667.2:g.76968529G>A GRCh38
NC_000005.9:g.76264354G>A , CM000667.1:g.76264354G>A GRCh37
NC_000005.8:g.76300110G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274368.9:c.812-199G>A MANE Select ENSP00000274368.4:n.812-199G>A
ENST00000274368.8:c.812-199G>A ENSP00000274368.4:n.812-199G>A
ENST00000503763.1:n.227-199G>A
ENST00000514258.1:n.311+5069G>A
NM_001882.3:c.812-199G>A NP_001873.2:n.812-199G>A
XR_948235.1:n.1111+5069G>A
XR_948235.3:n.1091+5069G>A
NM_001882.4:c.812-199G>A MANE Select NP_001873.2:n.812-199G>A
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