Canonical Allele Identifier: CA2410934493

Gene: CHKB-CPT1B

Linked Data

• dbSNP Id: rs2070601248
• gnomAD v4: 22-50578854-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50578854T>C , CM000684.2:g.50578854T>C	GRCh38
NC_000022.10:g.51017283T>C , CM000684.1:g.51017283T>C	GRCh37
NC_000022.9:g.49364149T>C	NCBI36
NG_012643.1:g.4814A>G
NG_029213.1:g.9146A>G , LRG_855:g.9146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452668.1:n.319+182A>G
ENST00000453634.5:c.328+182A>G	ENSP00000457031.1:n.328+182A>G
ENST00000492556.5:n.2189+182A>G
NR_027928.2:n.1551+182A>G