Canonical Allele Identifier: CA325538116

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs937196896
• gnomAD v2: 22-51019817-G-A
• gnomAD v4: 22-50581388-G-A
• MyVariant Identifiers: chr22:g.51019817G>A (hg19) ; chr22:g.50581388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581388G>A , CM000684.2:g.50581388G>A	GRCh38
NC_000022.10:g.51019817G>A , CM000684.1:g.51019817G>A	GRCh37
NC_000022.9:g.49366683G>A	NCBI36
NG_012643.1:g.2280C>T
NG_029213.1:g.6612C>T , LRG_855:g.6612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.581+32C>T (CHKB) MANE Select	ENSP00000384400.3:n.581+32C>T
ENST00000406938.2:c.581+32C>T (CHKB)	ENSP00000384400.2:n.581+32C>T
ENST00000463053.1:n.730+32C>T (CHKB)
ENST00000468532.5:n.458+32C>T (CHKB)
ENST00000476289.5:n.854+32C>T (CHKB)
ENST00000479003.5:n.1206+32C>T (CHKB)
ENST00000481673.5:n.1031+32C>T (CHKB)
ENST00000484266.5:n.577-728C>T (CHKB)
ENST00000492556.5:n.1351+32C>T (CHKB-CPT1B)
ENST00000492582.5:n.1240+32C>T (CHKB)
NM_005198.4:c.581+32C>T , LRG_855t1:c.581+32C>T (CHKB)	NP_005189.2:n.581+32C>T
NR_027928.2:n.799+32C>T (CHKB-CPT1B)
NM_005198.5:c.581+32C>T (CHKB) MANE Select	NP_005189.2:n.581+32C>T