Canonical Allele Identifier: CA10323878

Gene: CHKB CHKB-CPT1B

Linked Data

• ClinVar Variation Id: 423804
• ClinVar RCV Id: RCV000480811 ; RCV001245358
• dbSNP Id: rs765251030
• ExAC: 22:51020982 C / G
• gnomAD v2: 22-51020982-C-G
• gnomAD v3: 22-50582553-C-G
• gnomAD v4: 22-50582553-C-G
• MyVariant Identifiers: chr22:g.51020982C>G (hg19) ; chr22:g.50582553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582553C>G , CM000684.2:g.50582553C>G	GRCh38
NC_000022.10:g.51020982C>G , CM000684.1:g.51020982C>G	GRCh37
NC_000022.9:g.49367848C>G	NCBI36
NG_012643.1:g.1115G>C
NG_029213.1:g.5447G>C , LRG_855:g.5447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+5G>C (CHKB) MANE Select	ENSP00000384400.3:n.224+5G>C
ENST00000406938.2:c.224+5G>C (CHKB)	ENSP00000384400.2:n.224+5G>C
ENST00000463053.1:n.307-196G>C (CHKB)
ENST00000476289.5:n.302G>C (CHKB)
ENST00000479003.5:n.268G>C (CHKB)
ENST00000481673.5:n.288+5G>C (CHKB)
ENST00000484266.5:n.272G>C (CHKB)
ENST00000492556.5:n.413G>C (CHKB-CPT1B)
ENST00000492582.5:n.302G>C (CHKB)
NM_005198.4:c.224+5G>C , LRG_855t1:c.224+5G>C (CHKB)	NP_005189.2:n.224+5G>C
NR_027928.2:n.442+5G>C (CHKB-CPT1B)
NM_005198.5:c.224+5G>C (CHKB) MANE Select	NP_005189.2:n.224+5G>C