Canonical Allele Identifier: CA325540588

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs13054973
• gnomAD v2: 22-51020775-C-T
• gnomAD v4: 22-50582346-C-T
• MyVariant Identifiers: chr22:g.51020775C>T (hg19) ; chr22:g.50582346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582346C>T , CM000684.2:g.50582346C>T	GRCh38
NC_000022.10:g.51020775C>T , CM000684.1:g.51020775C>T	GRCh37
NC_000022.9:g.49367641C>T	NCBI36
NG_012643.1:g.1322G>A
NG_029213.1:g.5654G>A , LRG_855:g.5654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.236G>A (CHKB) MANE Select	ENSP00000384400.3:p.Ser79Asn
ENST00000406938.2:c.236G>A (CHKB)	ENSP00000384400.2:p.Ser79Asn
ENST00000463053.1:n.318G>A (CHKB)
ENST00000465842.1:n.75G>A (CHKB)
ENST00000468532.5:n.113G>A (CHKB)
ENST00000476289.5:n.509G>A (CHKB)
ENST00000479003.5:n.475G>A (CHKB)
ENST00000481673.5:n.300G>A (CHKB)
ENST00000484266.5:n.479G>A (CHKB)
ENST00000492556.5:n.620G>A (CHKB-CPT1B)
ENST00000492582.5:n.509G>A (CHKB)
NM_005198.4:c.236G>A , LRG_855t1:c.236G>A (CHKB)	NP_005189.2:p.Ser79Asn
NR_027928.2:n.454G>A (CHKB-CPT1B)
NM_005198.5:c.236G>A (CHKB) MANE Select	NP_005189.2:p.Ser79Asn