Canonical Allele Identifier: CA10323757

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs769882854
• ExAC: 22:51019917 C / T
• gnomAD v2: 22-51019917-C-T
• gnomAD v3: 22-50581488-C-T
• gnomAD v4: 22-50581488-C-T
• MyVariant Identifiers: chr22:g.51019917C>T (hg19) ; chr22:g.50581488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581488C>T , CM000684.2:g.50581488C>T	GRCh38
NC_000022.10:g.51019917C>T , CM000684.1:g.51019917C>T	GRCh37
NC_000022.9:g.49366783C>T	NCBI36
NG_012643.1:g.2180G>A
NG_029213.1:g.6512G>A , LRG_855:g.6512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.513G>A (CHKB) MANE Select	ENSP00000384400.3:p.Met171Ile
ENST00000406938.2:c.513G>A (CHKB)	ENSP00000384400.2:p.Met171Ile
ENST00000463053.1:n.662G>A (CHKB)
ENST00000468532.5:n.390G>A (CHKB)
ENST00000476289.5:n.786G>A (CHKB)
ENST00000479003.5:n.1138G>A (CHKB)
ENST00000481673.5:n.963G>A (CHKB)
ENST00000484266.5:n.576+761G>A (CHKB)
ENST00000492556.5:n.1283G>A (CHKB-CPT1B)
ENST00000492582.5:n.1172G>A (CHKB)
NM_005198.4:c.513G>A , LRG_855t1:c.513G>A (CHKB)	NP_005189.2:p.Met171Ile
NR_027928.2:n.731G>A (CHKB-CPT1B)
NM_005198.5:c.513G>A (CHKB) MANE Select	NP_005189.2:p.Met171Ile