Canonical Allele Identifier: CA10323863

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs746600504
• ExAC: 22:51020912 G / A
• gnomAD v2: 22-51020912-G-A
• gnomAD v3: 22-50582483-G-A
• gnomAD v4: 22-50582483-G-A
• MyVariant Identifiers: chr22:g.51020912G>A (hg19) ; chr22:g.50582483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582483G>A , CM000684.2:g.50582483G>A	GRCh38
NC_000022.10:g.51020912G>A , CM000684.1:g.51020912G>A	GRCh37
NC_000022.9:g.49367778G>A	NCBI36
NG_012643.1:g.1185C>T
NG_029213.1:g.5517C>T , LRG_855:g.5517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+75C>T (CHKB) MANE Select	ENSP00000384400.3:n.224+75C>T
ENST00000406938.2:c.224+75C>T (CHKB)	ENSP00000384400.2:n.224+75C>T
ENST00000463053.1:n.307-126C>T (CHKB)
ENST00000476289.5:n.372C>T (CHKB)
ENST00000479003.5:n.338C>T (CHKB)
ENST00000481673.5:n.288+75C>T (CHKB)
ENST00000484266.5:n.342C>T (CHKB)
ENST00000492556.5:n.483C>T (CHKB-CPT1B)
ENST00000492582.5:n.372C>T (CHKB)
NM_005198.4:c.224+75C>T , LRG_855t1:c.224+75C>T (CHKB)	NP_005189.2:n.224+75C>T
NR_027928.2:n.442+75C>T (CHKB-CPT1B)
NM_005198.5:c.224+75C>T (CHKB) MANE Select	NP_005189.2:n.224+75C>T