Canonical Allele Identifier: CA2410934418
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs1171967753
gnomAD v4: 22-50578736-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578736G>T , CM000684.2:g.50578736G>T GRCh38
NC_000022.10:g.51017165G>T , CM000684.1:g.51017165G>T GRCh37
NC_000022.9:g.49364031G>T NCBI36
NG_012643.1:g.4932C>A
NG_029213.1:g.9264C>A , LRG_855:g.9264C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-77C>A
ENST00000453634.5:c.329-77C>A ENSP00000457031.1:n.329-77C>A
ENST00000492556.5:n.2189+300C>A
NR_027928.2:n.1551+300C>A
Search 100 bp 5'
Search 100 bp 3'