Canonical Allele Identifier: CA412200666

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50581495-G-C
• MyVariant Identifiers: chr22:g.51019924G>C (hg19) ; chr22:g.50581495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581495G>C , CM000684.2:g.50581495G>C	GRCh38
NC_000022.10:g.51019924G>C , CM000684.1:g.51019924G>C	GRCh37
NC_000022.9:g.49366790G>C	NCBI36
NG_012643.1:g.2173C>G
NG_029213.1:g.6505C>G , LRG_855:g.6505C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.506C>G (CHKB) MANE Select	ENSP00000384400.3:p.Thr169Arg
ENST00000406938.2:c.506C>G (CHKB)	ENSP00000384400.2:p.Thr169Arg
ENST00000463053.1:n.655C>G (CHKB)
ENST00000468532.5:n.383C>G (CHKB)
ENST00000476289.5:n.779C>G (CHKB)
ENST00000479003.5:n.1131C>G (CHKB)
ENST00000481673.5:n.956C>G (CHKB)
ENST00000484266.5:n.576+754C>G (CHKB)
ENST00000492556.5:n.1276C>G (CHKB-CPT1B)
ENST00000492582.5:n.1165C>G (CHKB)
NM_005198.4:c.506C>G , LRG_855t1:c.506C>G (CHKB)	NP_005189.2:p.Thr169Arg
NR_027928.2:n.724C>G (CHKB-CPT1B)
NM_005198.5:c.506C>G (CHKB) MANE Select	NP_005189.2:p.Thr169Arg