Canonical Allele Identifier: CA412202998

Gene: CHKB CHKB-CPT1B

Linked Data

• MyVariant Identifiers: chr22:g.51021000C>G (hg19) ; chr22:g.50582571C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582571C>G , CM000684.2:g.50582571C>G	GRCh38
NC_000022.10:g.51021000C>G , CM000684.1:g.51021000C>G	GRCh37
NC_000022.9:g.49367866C>G	NCBI36
NG_012643.1:g.1097G>C
NG_029213.1:g.5429G>C , LRG_855:g.5429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.211G>C (CHKB) MANE Select	ENSP00000384400.3:p.Val71Leu
ENST00000406938.2:c.211G>C (CHKB)	ENSP00000384400.2:p.Val71Leu
ENST00000463053.1:n.307-214G>C (CHKB)
ENST00000476289.5:n.284G>C (CHKB)
ENST00000479003.5:n.250G>C (CHKB)
ENST00000481673.5:n.275G>C (CHKB)
ENST00000484266.5:n.254G>C (CHKB)
ENST00000492556.5:n.395G>C (CHKB-CPT1B)
ENST00000492582.5:n.284G>C (CHKB)
NM_005198.4:c.211G>C , LRG_855t1:c.211G>C (CHKB)	NP_005189.2:p.Val71Leu
NR_027928.2:n.429G>C (CHKB-CPT1B)
NM_005198.5:c.211G>C (CHKB) MANE Select	NP_005189.2:p.Val71Leu