Canonical Allele Identifier: CA325540687

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs930373080
• gnomAD v4: 22-50582447-C-A
• MyVariant Identifiers: chr22:g.51020876C>A (hg19) ; chr22:g.50582447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582447C>A , CM000684.2:g.50582447C>A	GRCh38
NC_000022.10:g.51020876C>A , CM000684.1:g.51020876C>A	GRCh37
NC_000022.9:g.49367742C>A	NCBI36
NG_012643.1:g.1221G>T
NG_029213.1:g.5553G>T , LRG_855:g.5553G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-90G>T (CHKB) MANE Select	ENSP00000384400.3:n.225-90G>T
ENST00000406938.2:c.225-90G>T (CHKB)	ENSP00000384400.2:n.225-90G>T
ENST00000463053.1:n.307-90G>T (CHKB)
ENST00000468532.5:n.12G>T (CHKB)
ENST00000476289.5:n.408G>T (CHKB)
ENST00000479003.5:n.374G>T (CHKB)
ENST00000481673.5:n.289-90G>T (CHKB)
ENST00000484266.5:n.378G>T (CHKB)
ENST00000492556.5:n.519G>T (CHKB-CPT1B)
ENST00000492582.5:n.408G>T (CHKB)
NM_005198.4:c.225-90G>T , LRG_855t1:c.225-90G>T (CHKB)	NP_005189.2:n.225-90G>T
NR_027928.2:n.443-90G>T (CHKB-CPT1B)
NM_005198.5:c.225-90G>T (CHKB) MANE Select	NP_005189.2:n.225-90G>T