Linked Data
ClinVar Variation Id:
342169
ClinVar RCV Id:
RCV000495910
dbSNP Id:
rs200919604
ExAC:
22:51018247 G / A
gnomAD v2:
22-51018247-G-A
gnomAD v3:
22-50579818-G-A
gnomAD v4:
22-50579818-G-A
COSMIC:
COSM1035534
MyVariant Identifiers:
chr22:g.51018247G>A (hg19)
chr22:g.51018247_51018248delinsAA (hg19)
chr22:g.50579818G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50579818G>A , CM000684.2:g.50579818G>A | GRCh38 |
| NC_000022.10:g.51018247G>A , CM000684.1:g.51018247G>A | GRCh37 |
| NC_000022.9:g.49365113G>A | NCBI36 |
| NG_012643.1:g.3850C>T | |
| NG_029213.1:g.8182C>T , LRG_855:g.8182C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406938.3:c.940C>T (CHKB) MANE Select | ENSP00000384400.3:p.Arg314Cys | |
| ENST00000406938.2:c.940C>T (CHKB) | ENSP00000384400.2:p.Arg314Cys | |
| ENST00000452668.1:n.39C>T (CHKB-CPT1B) | ||
| ENST00000464225.5:n.174-16C>T (CHKB) | ||
| ENST00000468532.5:n.903C>T (CHKB) | ||
| ENST00000471515.5:n.207-16C>T (CHKB) | ||
| ENST00000479003.5:n.1651C>T (CHKB) | ||
| ENST00000481673.5:n.1390C>T (CHKB) | ||
| ENST00000484266.5:n.935C>T (CHKB) | ||
| ENST00000489453.1:n.708C>T (CHKB) | ||
| ENST00000492556.5:n.1796C>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1599C>T (CHKB) | ||
| NM_005198.4:c.940C>T , LRG_855t1:c.940C>T (CHKB) | NP_005189.2:p.Arg314Cys | |
| NR_027928.2:n.1158C>T (CHKB-CPT1B) | ||
| NM_005198.5:c.940C>T (CHKB) MANE Select | NP_005189.2:p.Arg314Cys |