Canonical Allele Identifier: CA2410936507

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070719982
• gnomAD v4: 22-50582537-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582537G>A , CM000684.2:g.50582537G>A	GRCh38
NC_000022.10:g.51020966G>A , CM000684.1:g.51020966G>A	GRCh37
NC_000022.9:g.49367832G>A	NCBI36
NG_012643.1:g.1131C>T
NG_029213.1:g.5463C>T , LRG_855:g.5463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+21C>T (CHKB) MANE Select	ENSP00000384400.3:n.224+21C>T
ENST00000406938.2:c.224+21C>T (CHKB)	ENSP00000384400.2:n.224+21C>T
ENST00000463053.1:n.307-180C>T (CHKB)
ENST00000476289.5:n.318C>T (CHKB)
ENST00000479003.5:n.284C>T (CHKB)
ENST00000481673.5:n.288+21C>T (CHKB)
ENST00000484266.5:n.288C>T (CHKB)
ENST00000492556.5:n.429C>T (CHKB-CPT1B)
ENST00000492582.5:n.318C>T (CHKB)
NM_005198.4:c.224+21C>T , LRG_855t1:c.224+21C>T (CHKB)	NP_005189.2:n.224+21C>T
NR_027928.2:n.442+21C>T (CHKB-CPT1B)
NM_005198.5:c.224+21C>T (CHKB) MANE Select	NP_005189.2:n.224+21C>T