Canonical Allele Identifier: CA2657584162

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50582129-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582129G>A , CM000684.2:g.50582129G>A	GRCh38
NC_000022.10:g.51020558G>A , CM000684.1:g.51020558G>A	GRCh37
NC_000022.9:g.49367424G>A	NCBI36
NG_012643.1:g.1539C>T
NG_029213.1:g.5871C>T , LRG_855:g.5871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+120C>T (CHKB) MANE Select	ENSP00000384400.3:n.333+120C>T
ENST00000406938.2:c.333+120C>T (CHKB)	ENSP00000384400.2:n.333+120C>T
ENST00000463053.1:n.416-34C>T (CHKB)
ENST00000465842.1:n.172+120C>T (CHKB)
ENST00000468532.5:n.210+120C>T (CHKB)
ENST00000476289.5:n.606+120C>T (CHKB)
ENST00000479003.5:n.692C>T (CHKB)
ENST00000481673.5:n.517C>T (CHKB)
ENST00000484266.5:n.576+120C>T (CHKB)
ENST00000492556.5:n.837C>T (CHKB-CPT1B)
ENST00000492582.5:n.726C>T (CHKB)
NM_005198.4:c.333+120C>T , LRG_855t1:c.333+120C>T (CHKB)	NP_005189.2:n.333+120C>T
NR_027928.2:n.551+120C>T (CHKB-CPT1B)
NM_005198.5:c.333+120C>T (CHKB) MANE Select	NP_005189.2:n.333+120C>T