Canonical Allele Identifier: CA1026671725

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070707790
• gnomAD v3: 22-50582237-C-A
• gnomAD v4: 22-50582237-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582237C>A , CM000684.2:g.50582237C>A	GRCh38
NC_000022.10:g.51020666C>A , CM000684.1:g.51020666C>A	GRCh37
NC_000022.9:g.49367532C>A	NCBI36
NG_012643.1:g.1431G>T
NG_029213.1:g.5763G>T , LRG_855:g.5763G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+12G>T (CHKB) MANE Select	ENSP00000384400.3:n.333+12G>T
ENST00000406938.2:c.333+12G>T (CHKB)	ENSP00000384400.2:n.333+12G>T
ENST00000463053.1:n.415+12G>T (CHKB)
ENST00000465842.1:n.172+12G>T (CHKB)
ENST00000468532.5:n.210+12G>T (CHKB)
ENST00000476289.5:n.606+12G>T (CHKB)
ENST00000479003.5:n.584G>T (CHKB)
ENST00000481673.5:n.409G>T (CHKB)
ENST00000484266.5:n.576+12G>T (CHKB)
ENST00000492556.5:n.729G>T (CHKB-CPT1B)
ENST00000492582.5:n.618G>T (CHKB)
NM_005198.4:c.333+12G>T , LRG_855t1:c.333+12G>T (CHKB)	NP_005189.2:n.333+12G>T
NR_027928.2:n.551+12G>T (CHKB-CPT1B)
NM_005198.5:c.333+12G>T (CHKB) MANE Select	NP_005189.2:n.333+12G>T