Canonical Allele Identifier: CA2657580029
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

gnomAD v4: 22-50578858-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578858A>G , CM000684.2:g.50578858A>G GRCh38
NC_000022.10:g.51017287A>G , CM000684.1:g.51017287A>G GRCh37
NC_000022.9:g.49364153A>G NCBI36
NG_012643.1:g.4810T>C
NG_029213.1:g.9142T>C , LRG_855:g.9142T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452668.1:n.319+178T>C
ENST00000453634.5:c.328+178T>C ENSP00000457031.1:n.328+178T>C
ENST00000492556.5:n.2189+178T>C
NR_027928.2:n.1551+178T>C
Search 100 bp 5'
Search 100 bp 3'