Canonical Allele Identifier: CA754071745
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs1419515393
gnomAD v3: 22-50578734-G-A
gnomAD v4: 22-50578734-G-A
MyVariant Identifiers: chr22:g.51017163G>A (hg19) chr22:g.50578734G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578734G>A , CM000684.2:g.50578734G>A GRCh38
NC_000022.10:g.51017163G>A , CM000684.1:g.51017163G>A GRCh37
NC_000022.9:g.49364029G>A NCBI36
NG_012643.1:g.4934C>T
NG_029213.1:g.9266C>T , LRG_855:g.9266C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-75C>T
ENST00000453634.5:c.329-75C>T ENSP00000457031.1:n.329-75C>T
ENST00000492556.5:n.2189+302C>T
NR_027928.2:n.1551+302C>T
Search 100 bp 5'
Search 100 bp 3'