Canonical Allele Identifier: CA412200477

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs376194232
• gnomAD v4: 22-50581471-A-G
• MyVariant Identifiers: chr22:g.51019900A>G (hg19) ; chr22:g.50581471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581471A>G , CM000684.2:g.50581471A>G	GRCh38
NC_000022.10:g.51019900A>G , CM000684.1:g.51019900A>G	GRCh37
NC_000022.9:g.49366766A>G	NCBI36
NG_012643.1:g.2197T>C
NG_029213.1:g.6529T>C , LRG_855:g.6529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.530T>C (CHKB) MANE Select	ENSP00000384400.3:p.Met177Thr
ENST00000406938.2:c.530T>C (CHKB)	ENSP00000384400.2:p.Met177Thr
ENST00000463053.1:n.679T>C (CHKB)
ENST00000468532.5:n.407T>C (CHKB)
ENST00000476289.5:n.803T>C (CHKB)
ENST00000479003.5:n.1155T>C (CHKB)
ENST00000481673.5:n.980T>C (CHKB)
ENST00000484266.5:n.576+778T>C (CHKB)
ENST00000492556.5:n.1300T>C (CHKB-CPT1B)
ENST00000492582.5:n.1189T>C (CHKB)
NM_005198.4:c.530T>C , LRG_855t1:c.530T>C (CHKB)	NP_005189.2:p.Met177Thr
NR_027928.2:n.748T>C (CHKB-CPT1B)
NM_005198.5:c.530T>C (CHKB) MANE Select	NP_005189.2:p.Met177Thr