Canonical Allele Identifier: CA754071785
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs1410855048
MyVariant Identifiers: chr22:g.51017282C>A (hg19) chr22:g.50578853C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578853C>A , CM000684.2:g.50578853C>A GRCh38
NC_000022.10:g.51017282C>A , CM000684.1:g.51017282C>A GRCh37
NC_000022.9:g.49364148C>A NCBI36
NG_012643.1:g.4815G>T
NG_029213.1:g.9147G>T , LRG_855:g.9147G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000452668.1:n.319+183G>T
ENST00000453634.5:c.328+183G>T ENSP00000457031.1:n.328+183G>T
ENST00000492556.5:n.2189+183G>T
NR_027928.2:n.1551+183G>T
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