Canonical Allele Identifier: CA10323856

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs753890036
• ExAC: 22:51020899 G / A
• gnomAD v2: 22-51020899-G-A
• gnomAD v3: 22-50582470-G-A
• gnomAD v4: 22-50582470-G-A
• MyVariant Identifiers: chr22:g.51020899G>A (hg19) ; chr22:g.50582470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582470G>A , CM000684.2:g.50582470G>A	GRCh38
NC_000022.10:g.51020899G>A , CM000684.1:g.51020899G>A	GRCh37
NC_000022.9:g.49367765G>A	NCBI36
NG_012643.1:g.1198C>T
NG_029213.1:g.5530C>T , LRG_855:g.5530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+88C>T (CHKB) MANE Select	ENSP00000384400.3:n.224+88C>T
ENST00000406938.2:c.224+88C>T (CHKB)	ENSP00000384400.2:n.224+88C>T
ENST00000463053.1:n.307-113C>T (CHKB)
ENST00000476289.5:n.385C>T (CHKB)
ENST00000479003.5:n.351C>T (CHKB)
ENST00000481673.5:n.288+88C>T (CHKB)
ENST00000484266.5:n.355C>T (CHKB)
ENST00000492556.5:n.496C>T (CHKB-CPT1B)
ENST00000492582.5:n.385C>T (CHKB)
NM_005198.4:c.224+88C>T , LRG_855t1:c.224+88C>T (CHKB)	NP_005189.2:n.224+88C>T
NR_027928.2:n.442+88C>T (CHKB-CPT1B)
NM_005198.5:c.224+88C>T (CHKB) MANE Select	NP_005189.2:n.224+88C>T