Canonical Allele Identifier: CA2410936171

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070702980
• gnomAD v4: 22-50582074-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582074C>G , CM000684.2:g.50582074C>G	GRCh38
NC_000022.10:g.51020503C>G , CM000684.1:g.51020503C>G	GRCh37
NC_000022.9:g.49367369C>G	NCBI36
NG_012643.1:g.1594G>C
NG_029213.1:g.5926G>C , LRG_855:g.5926G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+175G>C (CHKB) MANE Select	ENSP00000384400.3:n.333+175G>C
ENST00000406938.2:c.333+175G>C (CHKB)	ENSP00000384400.2:n.333+175G>C
ENST00000463053.1:n.437G>C (CHKB)
ENST00000465842.1:n.172+175G>C (CHKB)
ENST00000468532.5:n.210+175G>C (CHKB)
ENST00000476289.5:n.606+175G>C (CHKB)
ENST00000479003.5:n.747G>C (CHKB)
ENST00000481673.5:n.572G>C (CHKB)
ENST00000484266.5:n.576+175G>C (CHKB)
ENST00000492556.5:n.892G>C (CHKB-CPT1B)
ENST00000492582.5:n.781G>C (CHKB)
NM_005198.4:c.333+175G>C , LRG_855t1:c.333+175G>C (CHKB)	NP_005189.2:n.333+175G>C
NR_027928.2:n.551+175G>C (CHKB-CPT1B)
NM_005198.5:c.333+175G>C (CHKB) MANE Select	NP_005189.2:n.333+175G>C