Canonical Allele Identifier: CA325537690

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50580713G>T , CM000684.2:g.50580713G>T	GRCh38
NC_000022.10:g.51019142G>T , CM000684.1:g.51019142G>T	GRCh37
NC_000022.9:g.49366008G>T	NCBI36
NG_012643.1:g.2955C>A
NG_029213.1:g.7287C>A , LRG_855:g.7287C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.582-53C>A (CHKB) MANE Select	NP_005189.2:n.582-53C>A
ENST00000406938.3:c.582-53C>A (CHKB) MANE Select	ENSP00000384400.3:n.582-53C>A
NM_005198.4:c.582-53C>A , LRG_855t1:c.582-53C>A (CHKB)	NP_005189.2:n.582-53C>A
NR_027928.2:n.800-53C>A (CHKB-CPT1B)
ENST00000406938.2:c.582-53C>A (CHKB)	ENSP00000384400.2:n.582-53C>A
ENST00000463053.1:n.731-53C>A (CHKB)
ENST00000468532.5:n.459-53C>A (CHKB)
ENST00000476289.5:n.855-53C>A (CHKB)
ENST00000479003.5:n.1207-53C>A (CHKB)
ENST00000481673.5:n.1032-53C>A (CHKB)
ENST00000484266.5:n.577-53C>A (CHKB)
ENST00000489453.1:n.68C>A (CHKB)
ENST00000492556.5:n.1352-53C>A (CHKB-CPT1B)
ENST00000492582.5:n.1241-53C>A (CHKB)