Canonical Allele Identifier: CA325538445

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs548828466
• gnomAD v3: 22-50581946-G-C
• gnomAD v4: 22-50581946-G-C
• MyVariant Identifiers: chr22:g.51020375G>C (hg19) ; chr22:g.50581946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581946G>C , CM000684.2:g.50581946G>C	GRCh38
NC_000022.10:g.51020375G>C , CM000684.1:g.51020375G>C	GRCh37
NC_000022.9:g.49367241G>C	NCBI36
NG_012643.1:g.1722C>G
NG_029213.1:g.6054C>G , LRG_855:g.6054C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-84C>G (CHKB) MANE Select	ENSP00000384400.3:n.334-84C>G
ENST00000406938.2:c.334-84C>G (CHKB)	ENSP00000384400.2:n.334-84C>G
ENST00000463053.1:n.483-84C>G (CHKB)
ENST00000465842.1:n.173-84C>G (CHKB)
ENST00000468532.5:n.211-84C>G (CHKB)
ENST00000476289.5:n.607-84C>G (CHKB)
ENST00000479003.5:n.875C>G (CHKB)
ENST00000481673.5:n.700C>G (CHKB)
ENST00000484266.5:n.576+303C>G (CHKB)
ENST00000492556.5:n.1020C>G (CHKB-CPT1B)
ENST00000492582.5:n.909C>G (CHKB)
NM_005198.4:c.334-84C>G , LRG_855t1:c.334-84C>G (CHKB)	NP_005189.2:n.334-84C>G
NR_027928.2:n.552-84C>G (CHKB-CPT1B)
NM_005198.5:c.334-84C>G (CHKB) MANE Select	NP_005189.2:n.334-84C>G