Canonical Allele Identifier: CA2657580106
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578933C>A , CM000684.2:g.50578933C>A GRCh38
NC_000022.10:g.51017362C>A , CM000684.1:g.51017362C>A GRCh37
NC_000022.9:g.49364228C>A NCBI36
NG_012643.1:g.4735G>T
NG_029213.1:g.9067G>T , LRG_855:g.9067G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.319+103G>T
ENST00000453634.5:c.328+103G>T ENSP00000457031.1:n.328+103G>T
ENST00000492556.5:n.2189+103G>T
NR_027928.2:n.1551+103G>T