Canonical Allele Identifier: CA10323872

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs774714523
• ExAC: 22:51020949 G / C
• gnomAD v2: 22-51020949-G-C
• gnomAD v4: 22-50582520-G-C
• MyVariant Identifiers: chr22:g.51020949G>C (hg19) ; chr22:g.50582520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582520G>C , CM000684.2:g.50582520G>C	GRCh38
NC_000022.10:g.51020949G>C , CM000684.1:g.51020949G>C	GRCh37
NC_000022.9:g.49367815G>C	NCBI36
NG_012643.1:g.1148C>G
NG_029213.1:g.5480C>G , LRG_855:g.5480C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+38C>G (CHKB) MANE Select	ENSP00000384400.3:n.224+38C>G
ENST00000406938.2:c.224+38C>G (CHKB)	ENSP00000384400.2:n.224+38C>G
ENST00000463053.1:n.307-163C>G (CHKB)
ENST00000476289.5:n.335C>G (CHKB)
ENST00000479003.5:n.301C>G (CHKB)
ENST00000481673.5:n.288+38C>G (CHKB)
ENST00000484266.5:n.305C>G (CHKB)
ENST00000492556.5:n.446C>G (CHKB-CPT1B)
ENST00000492582.5:n.335C>G (CHKB)
NM_005198.4:c.224+38C>G , LRG_855t1:c.224+38C>G (CHKB)	NP_005189.2:n.224+38C>G
NR_027928.2:n.442+38C>G (CHKB-CPT1B)
NM_005198.5:c.224+38C>G (CHKB) MANE Select	NP_005189.2:n.224+38C>G