Canonical Allele Identifier: CA1026671631

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070700971
• gnomAD v3: 22-50581989-T-C
• gnomAD v4: 22-50581989-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581989T>C , CM000684.2:g.50581989T>C	GRCh38
NC_000022.10:g.51020418T>C , CM000684.1:g.51020418T>C	GRCh37
NC_000022.9:g.49367284T>C	NCBI36
NG_012643.1:g.1679A>G
NG_029213.1:g.6011A>G , LRG_855:g.6011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-127A>G (CHKB) MANE Select	ENSP00000384400.3:n.334-127A>G
ENST00000406938.2:c.334-127A>G (CHKB)	ENSP00000384400.2:n.334-127A>G
ENST00000463053.1:n.482+40A>G (CHKB)
ENST00000465842.1:n.173-127A>G (CHKB)
ENST00000468532.5:n.211-127A>G (CHKB)
ENST00000476289.5:n.607-127A>G (CHKB)
ENST00000479003.5:n.832A>G (CHKB)
ENST00000481673.5:n.657A>G (CHKB)
ENST00000484266.5:n.576+260A>G (CHKB)
ENST00000492556.5:n.977A>G (CHKB-CPT1B)
ENST00000492582.5:n.866A>G (CHKB)
NM_005198.4:c.334-127A>G , LRG_855t1:c.334-127A>G (CHKB)	NP_005189.2:n.334-127A>G
NR_027928.2:n.552-127A>G (CHKB-CPT1B)
NM_005198.5:c.334-127A>G (CHKB) MANE Select	NP_005189.2:n.334-127A>G