Canonical Allele Identifier: CA754073362

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1454770331
• gnomAD v4: 22-50582122-G-A
• MyVariant Identifiers: chr22:g.51020551G>A (hg19) ; chr22:g.50582122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582122G>A , CM000684.2:g.50582122G>A	GRCh38
NC_000022.10:g.51020551G>A , CM000684.1:g.51020551G>A	GRCh37
NC_000022.9:g.49367417G>A	NCBI36
NG_012643.1:g.1546C>T
NG_029213.1:g.5878C>T , LRG_855:g.5878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.333+127C>T (CHKB) MANE Select	ENSP00000384400.3:n.333+127C>T
ENST00000406938.2:c.333+127C>T (CHKB)	ENSP00000384400.2:n.333+127C>T
ENST00000463053.1:n.416-27C>T (CHKB)
ENST00000465842.1:n.172+127C>T (CHKB)
ENST00000468532.5:n.210+127C>T (CHKB)
ENST00000476289.5:n.606+127C>T (CHKB)
ENST00000479003.5:n.699C>T (CHKB)
ENST00000481673.5:n.524C>T (CHKB)
ENST00000484266.5:n.576+127C>T (CHKB)
ENST00000492556.5:n.844C>T (CHKB-CPT1B)
ENST00000492582.5:n.733C>T (CHKB)
NM_005198.4:c.333+127C>T , LRG_855t1:c.333+127C>T (CHKB)	NP_005189.2:n.333+127C>T
NR_027928.2:n.551+127C>T (CHKB-CPT1B)
NM_005198.5:c.333+127C>T (CHKB) MANE Select	NP_005189.2:n.333+127C>T