Canonical Allele Identifier: CA515275819

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1431532272
• gnomAD v2: 22-51020753-C-G
• MyVariant Identifiers: chr22:g.51020753C>G (hg19) ; chr22:g.50582324C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582324C>G , CM000684.2:g.50582324C>G	GRCh38
NC_000022.10:g.51020753C>G , CM000684.1:g.51020753C>G	GRCh37
NC_000022.9:g.49367619C>G	NCBI36
NG_012643.1:g.1344G>C
NG_029213.1:g.5676G>C , LRG_855:g.5676G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.258G>C (CHKB) MANE Select	ENSP00000384400.3:p.Ser86=
ENST00000406938.2:c.258G>C (CHKB)	ENSP00000384400.2:p.Ser86=
ENST00000463053.1:n.340G>C (CHKB)
ENST00000465842.1:n.97G>C (CHKB)
ENST00000468532.5:n.135G>C (CHKB)
ENST00000476289.5:n.531G>C (CHKB)
ENST00000479003.5:n.497G>C (CHKB)
ENST00000481673.5:n.322G>C (CHKB)
ENST00000484266.5:n.501G>C (CHKB)
ENST00000492556.5:n.642G>C (CHKB-CPT1B)
ENST00000492582.5:n.531G>C (CHKB)
NM_005198.4:c.258G>C , LRG_855t1:c.258G>C (CHKB)	NP_005189.2:p.Ser86=
NR_027928.2:n.476G>C (CHKB-CPT1B)
NM_005198.5:c.258G>C (CHKB) MANE Select	NP_005189.2:p.Ser86=