Canonical Allele Identifier: CA2410936199

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070704286
• gnomAD v3: 22-50582119-G-C
• gnomAD v4: 22-50582119-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582119G>C , CM000684.2:g.50582119G>C	GRCh38
NC_000022.10:g.51020548G>C , CM000684.1:g.51020548G>C	GRCh37
NC_000022.9:g.49367414G>C	NCBI36
NG_012643.1:g.1549C>G
NG_029213.1:g.5881C>G , LRG_855:g.5881C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+130C>G (CHKB) MANE Select	ENSP00000384400.3:n.333+130C>G
ENST00000406938.2:c.333+130C>G (CHKB)	ENSP00000384400.2:n.333+130C>G
ENST00000463053.1:n.416-24C>G (CHKB)
ENST00000465842.1:n.172+130C>G (CHKB)
ENST00000468532.5:n.210+130C>G (CHKB)
ENST00000476289.5:n.606+130C>G (CHKB)
ENST00000479003.5:n.702C>G (CHKB)
ENST00000481673.5:n.527C>G (CHKB)
ENST00000484266.5:n.576+130C>G (CHKB)
ENST00000492556.5:n.847C>G (CHKB-CPT1B)
ENST00000492582.5:n.736C>G (CHKB)
NM_005198.4:c.333+130C>G , LRG_855t1:c.333+130C>G (CHKB)	NP_005189.2:n.333+130C>G
NR_027928.2:n.551+130C>G (CHKB-CPT1B)
NM_005198.5:c.333+130C>G (CHKB) MANE Select	NP_005189.2:n.333+130C>G