Canonical Allele Identifier: CA2657584146

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582121-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582121T>G , CM000684.2:g.50582121T>G	GRCh38
NC_000022.10:g.51020550T>G , CM000684.1:g.51020550T>G	GRCh37
NC_000022.9:g.49367416T>G	NCBI36
NG_012643.1:g.1547A>C
NG_029213.1:g.5879A>C , LRG_855:g.5879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+128A>C (CHKB) MANE Select	ENSP00000384400.3:n.333+128A>C
ENST00000406938.2:c.333+128A>C (CHKB)	ENSP00000384400.2:n.333+128A>C
ENST00000463053.1:n.416-26A>C (CHKB)
ENST00000465842.1:n.172+128A>C (CHKB)
ENST00000468532.5:n.210+128A>C (CHKB)
ENST00000476289.5:n.606+128A>C (CHKB)
ENST00000479003.5:n.700A>C (CHKB)
ENST00000481673.5:n.525A>C (CHKB)
ENST00000484266.5:n.576+128A>C (CHKB)
ENST00000492556.5:n.845A>C (CHKB-CPT1B)
ENST00000492582.5:n.734A>C (CHKB)
NM_005198.4:c.333+128A>C , LRG_855t1:c.333+128A>C (CHKB)	NP_005189.2:n.333+128A>C
NR_027928.2:n.551+128A>C (CHKB-CPT1B)
NM_005198.5:c.333+128A>C (CHKB) MANE Select	NP_005189.2:n.333+128A>C