Canonical Allele Identifier: CA754073321

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1481433971
• gnomAD v3: 22-50581977-G-A
• gnomAD v4: 22-50581977-G-A
• MyVariant Identifiers: chr22:g.51020406G>A (hg19) ; chr22:g.50581977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581977G>A , CM000684.2:g.50581977G>A	GRCh38
NC_000022.10:g.51020406G>A , CM000684.1:g.51020406G>A	GRCh37
NC_000022.9:g.49367272G>A	NCBI36
NG_012643.1:g.1691C>T
NG_029213.1:g.6023C>T , LRG_855:g.6023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-115C>T (CHKB) MANE Select	ENSP00000384400.3:n.334-115C>T
ENST00000406938.2:c.334-115C>T (CHKB)	ENSP00000384400.2:n.334-115C>T
ENST00000463053.1:n.482+52C>T (CHKB)
ENST00000465842.1:n.173-115C>T (CHKB)
ENST00000468532.5:n.211-115C>T (CHKB)
ENST00000476289.5:n.607-115C>T (CHKB)
ENST00000479003.5:n.844C>T (CHKB)
ENST00000481673.5:n.669C>T (CHKB)
ENST00000484266.5:n.576+272C>T (CHKB)
ENST00000492556.5:n.989C>T (CHKB-CPT1B)
ENST00000492582.5:n.878C>T (CHKB)
NM_005198.4:c.334-115C>T , LRG_855t1:c.334-115C>T (CHKB)	NP_005189.2:n.334-115C>T
NR_027928.2:n.552-115C>T (CHKB-CPT1B)
NM_005198.5:c.334-115C>T (CHKB) MANE Select	NP_005189.2:n.334-115C>T