Canonical Allele Identifier: CA515275797

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582300-A-C
• MyVariant Identifiers: chr22:g.51020729A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582300A>C , CM000684.2:g.50582300A>C	GRCh38
NC_000022.10:g.51020729A>C , CM000684.1:g.51020729A>C	GRCh37
NC_000022.9:g.49367595A>C	NCBI36
NG_012643.1:g.1368T>G
NG_029213.1:g.5700T>G , LRG_855:g.5700T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.282T>G (CHKB) MANE Select	ENSP00000384400.3:p.Val94=
ENST00000406938.2:c.282T>G (CHKB)	ENSP00000384400.2:p.Val94=
ENST00000463053.1:n.364T>G (CHKB)
ENST00000465842.1:n.121T>G (CHKB)
ENST00000468532.5:n.159T>G (CHKB)
ENST00000476289.5:n.555T>G (CHKB)
ENST00000479003.5:n.521T>G (CHKB)
ENST00000481673.5:n.346T>G (CHKB)
ENST00000484266.5:n.525T>G (CHKB)
ENST00000492556.5:n.666T>G (CHKB-CPT1B)
ENST00000492582.5:n.555T>G (CHKB)
NM_005198.4:c.282T>G , LRG_855t1:c.282T>G (CHKB)	NP_005189.2:p.Val94=
NR_027928.2:n.500T>G (CHKB-CPT1B)
NM_005198.5:c.282T>G (CHKB) MANE Select	NP_005189.2:p.Val94=