Canonical Allele Identifier: CA412200761

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070690337
• gnomAD v3: 22-50581505-C-T
• gnomAD v4: 22-50581505-C-T
• MyVariant Identifiers: chr22:g.51019934C>T (hg19) ; chr22:g.50581505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581505C>T , CM000684.2:g.50581505C>T	GRCh38
NC_000022.10:g.51019934C>T , CM000684.1:g.51019934C>T	GRCh37
NC_000022.9:g.49366800C>T	NCBI36
NG_012643.1:g.2163G>A
NG_029213.1:g.6495G>A , LRG_855:g.6495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.496G>A (CHKB) MANE Select	ENSP00000384400.3:p.Ala166Thr
ENST00000406938.2:c.496G>A (CHKB)	ENSP00000384400.2:p.Ala166Thr
ENST00000463053.1:n.645G>A (CHKB)
ENST00000468532.5:n.373G>A (CHKB)
ENST00000476289.5:n.769G>A (CHKB)
ENST00000479003.5:n.1121G>A (CHKB)
ENST00000481673.5:n.946G>A (CHKB)
ENST00000484266.5:n.576+744G>A (CHKB)
ENST00000492556.5:n.1266G>A (CHKB-CPT1B)
ENST00000492582.5:n.1155G>A (CHKB)
NM_005198.4:c.496G>A , LRG_855t1:c.496G>A (CHKB)	NP_005189.2:p.Ala166Thr
NR_027928.2:n.714G>A (CHKB-CPT1B)
NM_005198.5:c.496G>A (CHKB) MANE Select	NP_005189.2:p.Ala166Thr