Canonical Allele Identifier: CA2657580007
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578844G>T , CM000684.2:g.50578844G>T GRCh38
NC_000022.10:g.51017273G>T , CM000684.1:g.51017273G>T GRCh37
NC_000022.9:g.49364139G>T NCBI36
NG_012643.1:g.4824C>A
NG_029213.1:g.9156C>A , LRG_855:g.9156C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452668.1:n.320-185C>A
ENST00000453634.5:c.329-185C>A ENSP00000457031.1:n.329-185C>A
ENST00000492556.5:n.2189+192C>A
NR_027928.2:n.1551+192C>A