Canonical Allele Identifier: CA640055275

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1227229552
• gnomAD v2: 22-51020388-C-A
• gnomAD v3: 22-50581959-C-A
• gnomAD v4: 22-50581959-C-A
• MyVariant Identifiers: chr22:g.51020388C>A (hg19) ; chr22:g.50581959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581959C>A , CM000684.2:g.50581959C>A	GRCh38
NC_000022.10:g.51020388C>A , CM000684.1:g.51020388C>A	GRCh37
NC_000022.9:g.49367254C>A	NCBI36
NG_012643.1:g.1709G>T
NG_029213.1:g.6041G>T , LRG_855:g.6041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-97G>T (CHKB) MANE Select	ENSP00000384400.3:n.334-97G>T
ENST00000406938.2:c.334-97G>T (CHKB)	ENSP00000384400.2:n.334-97G>T
ENST00000463053.1:n.482+70G>T (CHKB)
ENST00000465842.1:n.173-97G>T (CHKB)
ENST00000468532.5:n.211-97G>T (CHKB)
ENST00000476289.5:n.607-97G>T (CHKB)
ENST00000479003.5:n.862G>T (CHKB)
ENST00000481673.5:n.687G>T (CHKB)
ENST00000484266.5:n.576+290G>T (CHKB)
ENST00000492556.5:n.1007G>T (CHKB-CPT1B)
ENST00000492582.5:n.896G>T (CHKB)
NM_005198.4:c.334-97G>T , LRG_855t1:c.334-97G>T (CHKB)	NP_005189.2:n.334-97G>T
NR_027928.2:n.552-97G>T (CHKB-CPT1B)
NM_005198.5:c.334-97G>T (CHKB) MANE Select	NP_005189.2:n.334-97G>T