Canonical Allele Identifier: CA412199440

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50580564C>G , CM000684.2:g.50580564C>G	GRCh38
NC_000022.10:g.51018993C>G , CM000684.1:g.51018993C>G	GRCh37
NC_000022.9:g.49365859C>G	NCBI36
NG_012643.1:g.3104G>C
NG_029213.1:g.7436G>C , LRG_855:g.7436G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.677+1G>C (CHKB) MANE Select	NP_005189.2:n.677+1G>C
ENST00000406938.3:c.677+1G>C (CHKB) MANE Select	ENSP00000384400.3:n.677+1G>C
NM_005198.4:c.677+1G>C , LRG_855t1:c.677+1G>C (CHKB)	NP_005189.2:n.677+1G>C
NR_027928.2:n.895+1G>C (CHKB-CPT1B)
ENST00000406938.2:c.677+1G>C (CHKB)	ENSP00000384400.2:n.677+1G>C
ENST00000463053.1:n.826+1G>C (CHKB)
ENST00000468532.5:n.554+1G>C (CHKB)
ENST00000471515.5:n.39+1G>C (CHKB)
ENST00000476289.5:n.950+1G>C (CHKB)
ENST00000479003.5:n.1302+1G>C (CHKB)
ENST00000481673.5:n.1127+1G>C (CHKB)
ENST00000484266.5:n.672+1G>C (CHKB)
ENST00000489453.1:n.216+1G>C (CHKB)
ENST00000492556.5:n.1447+1G>C (CHKB-CPT1B)
ENST00000492582.5:n.1336+1G>C (CHKB)