Canonical Allele Identifier: CA412200943
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.51019962T>A (hg19) chr22:g.50581533T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581533T>A , CM000684.2:g.50581533T>A GRCh38
NC_000022.10:g.51019962T>A , CM000684.1:g.51019962T>A GRCh37
NC_000022.9:g.49366828T>A NCBI36
NG_012643.1:g.2135A>T
NG_029213.1:g.6467A>T , LRG_855:g.6467A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.468A>T (CHKB) MANE Select ENSP00000384400.3:p.Gln156His
ENST00000406938.2:c.468A>T (CHKB) ENSP00000384400.2:p.Gln156His
ENST00000463053.1:n.617A>T (CHKB)
ENST00000468532.5:n.345A>T (CHKB)
ENST00000476289.5:n.741A>T (CHKB)
ENST00000479003.5:n.1093A>T (CHKB)
ENST00000481673.5:n.918A>T (CHKB)
ENST00000484266.5:n.576+716A>T (CHKB)
ENST00000492556.5:n.1238A>T (CHKB-CPT1B)
ENST00000492582.5:n.1127A>T (CHKB)
NM_005198.4:c.468A>T , LRG_855t1:c.468A>T (CHKB) NP_005189.2:p.Gln156His
NR_027928.2:n.686A>T (CHKB-CPT1B)
NM_005198.5:c.468A>T (CHKB) MANE Select NP_005189.2:p.Gln156His
Search 100 bp 5'
Search 100 bp 3'