Canonical Allele Identifier: CA10323751

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs757942378
• ExAC: 22:51019891 G / A
• gnomAD v2: 22-51019891-G-A
• gnomAD v4: 22-50581462-G-A
• COSMIC: COSM4672168
• MyVariant Identifiers: chr22:g.51019891G>A (hg19) ; chr22:g.50581462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581462G>A , CM000684.2:g.50581462G>A	GRCh38
NC_000022.10:g.51019891G>A , CM000684.1:g.51019891G>A	GRCh37
NC_000022.9:g.49366757G>A	NCBI36
NG_012643.1:g.2206C>T
NG_029213.1:g.6538C>T , LRG_855:g.6538C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.539C>T (CHKB) MANE Select	ENSP00000384400.3:p.Pro180Leu
ENST00000406938.2:c.539C>T (CHKB)	ENSP00000384400.2:p.Pro180Leu
ENST00000463053.1:n.688C>T (CHKB)
ENST00000468532.5:n.416C>T (CHKB)
ENST00000476289.5:n.812C>T (CHKB)
ENST00000479003.5:n.1164C>T (CHKB)
ENST00000481673.5:n.989C>T (CHKB)
ENST00000484266.5:n.576+787C>T (CHKB)
ENST00000492556.5:n.1309C>T (CHKB-CPT1B)
ENST00000492582.5:n.1198C>T (CHKB)
NM_005198.4:c.539C>T , LRG_855t1:c.539C>T (CHKB)	NP_005189.2:p.Pro180Leu
NR_027928.2:n.757C>T (CHKB-CPT1B)
NM_005198.5:c.539C>T (CHKB) MANE Select	NP_005189.2:p.Pro180Leu