Canonical Allele Identifier: CA412200979

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50581546-G-A
• MyVariant Identifiers: chr22:g.51019975G>A (hg19) ; chr22:g.50581546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581546G>A , CM000684.2:g.50581546G>A	GRCh38
NC_000022.10:g.51019975G>A , CM000684.1:g.51019975G>A	GRCh37
NC_000022.9:g.49366841G>A	NCBI36
NG_012643.1:g.2122C>T
NG_029213.1:g.6454C>T , LRG_855:g.6454C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000406938.3:c.455C>T (CHKB) MANE Select	ENSP00000384400.3:p.Pro152Leu
ENST00000406938.2:c.455C>T (CHKB)	ENSP00000384400.2:p.Pro152Leu
ENST00000463053.1:n.604C>T (CHKB)
ENST00000468532.5:n.332C>T (CHKB)
ENST00000476289.5:n.728C>T (CHKB)
ENST00000479003.5:n.1080C>T (CHKB)
ENST00000481673.5:n.905C>T (CHKB)
ENST00000484266.5:n.576+703C>T (CHKB)
ENST00000492556.5:n.1225C>T (CHKB-CPT1B)
ENST00000492582.5:n.1114C>T (CHKB)
NM_005198.4:c.455C>T , LRG_855t1:c.455C>T (CHKB)	NP_005189.2:p.Pro152Leu
NR_027928.2:n.673C>T (CHKB-CPT1B)
NM_005198.5:c.455C>T (CHKB) MANE Select	NP_005189.2:p.Pro152Leu