Canonical Allele Identifier: CA412202711

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1366530797
• gnomAD v2: 22-51020779-G-A
• gnomAD v4: 22-50582350-G-A
• MyVariant Identifiers: chr22:g.51020779G>A (hg19) ; chr22:g.50582350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582350G>A , CM000684.2:g.50582350G>A	GRCh38
NC_000022.10:g.51020779G>A , CM000684.1:g.51020779G>A	GRCh37
NC_000022.9:g.49367645G>A	NCBI36
NG_012643.1:g.1318C>T
NG_029213.1:g.5650C>T , LRG_855:g.5650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.232C>T (CHKB) MANE Select	ENSP00000384400.3:p.Leu78Phe
ENST00000406938.2:c.232C>T (CHKB)	ENSP00000384400.2:p.Leu78Phe
ENST00000463053.1:n.314C>T (CHKB)
ENST00000465842.1:n.71C>T (CHKB)
ENST00000468532.5:n.109C>T (CHKB)
ENST00000476289.5:n.505C>T (CHKB)
ENST00000479003.5:n.471C>T (CHKB)
ENST00000481673.5:n.296C>T (CHKB)
ENST00000484266.5:n.475C>T (CHKB)
ENST00000492556.5:n.616C>T (CHKB-CPT1B)
ENST00000492582.5:n.505C>T (CHKB)
NM_005198.4:c.232C>T , LRG_855t1:c.232C>T (CHKB)	NP_005189.2:p.Leu78Phe
NR_027928.2:n.450C>T (CHKB-CPT1B)
NM_005198.5:c.232C>T (CHKB) MANE Select	NP_005189.2:p.Leu78Phe