Canonical Allele Identifier: CA325536653
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs569149253
gnomAD v2: 22-51017168-G-A
gnomAD v3: 22-50578739-G-A
gnomAD v4: 22-50578739-G-A
MyVariant Identifiers: chr22:g.51017168G>A (hg19) chr22:g.50578739G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578739G>A , CM000684.2:g.50578739G>A GRCh38
NC_000022.10:g.51017168G>A , CM000684.1:g.51017168G>A GRCh37
NC_000022.9:g.49364034G>A NCBI36
NG_012643.1:g.4929C>T
NG_029213.1:g.9261C>T , LRG_855:g.9261C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-80C>T
ENST00000453634.5:c.329-80C>T ENSP00000457031.1:n.329-80C>T
ENST00000492556.5:n.2189+297C>T
NR_027928.2:n.1551+297C>T
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