Canonical Allele Identifier: CA10323878
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50582553C>G
GRCh37 chr22:g.51020982C>G
gnomAD v2:
22:51020982 C / G
gnomAD v3:
22:50582553 C / G
gnomAD v4:
chr22-50582553-C-G
Joint Max Group AF 0.00003431 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003382 (NFE)
ClinVar RCV:
RCV000480811
RCV001245358
ClinVar Variation:
423804
dbSNP:
765251030
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582553C>G , CM000684.2:g.50582553C>G GRCh38
NC_000022.10:g.51020982C>G , CM000684.1:g.51020982C>G GRCh37
NC_000022.9:g.49367848C>G NCBI36
NG_012643.1:g.1115G>C
NG_029213.1:g.5447G>C , LRG_855:g.5447G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.224+5G>C (CHKB) MANE Select ENSP00000384400.3:n.224+5G>C
ENST00000406938.2:c.224+5G>C (CHKB) ENSP00000384400.2:n.224+5G>C
ENST00000463053.1:n.307-196G>C (CHKB)
ENST00000476289.5:n.302G>C (CHKB)
ENST00000479003.5:n.268G>C (CHKB)
ENST00000481673.5:n.288+5G>C (CHKB)
ENST00000484266.5:n.272G>C (CHKB)
ENST00000492556.5:n.413G>C (CHKB-CPT1B)
ENST00000492582.5:n.302G>C (CHKB)
NM_005198.4:c.224+5G>C , LRG_855t1:c.224+5G>C (CHKB) NP_005189.2:n.224+5G>C
NR_027928.2:n.442+5G>C (CHKB-CPT1B)
NM_005198.5:c.224+5G>C (CHKB) MANE Select NP_005189.2:n.224+5G>C
Search 100 bp 5'
Search 100 bp 3'