Canonical Allele Identifier: CA325536651
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs925145394
gnomAD v2: 22-51017164-G-A
gnomAD v3: 22-50578735-G-A
gnomAD v4: 22-50578735-G-A
MyVariant Identifiers: chr22:g.51017164G>A (hg19) chr22:g.50578735G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578735G>A , CM000684.2:g.50578735G>A GRCh38
NC_000022.10:g.51017164G>A , CM000684.1:g.51017164G>A GRCh37
NC_000022.9:g.49364030G>A NCBI36
NG_012643.1:g.4933C>T
NG_029213.1:g.9265C>T , LRG_855:g.9265C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-76C>T
ENST00000453634.5:c.329-76C>T ENSP00000457031.1:n.329-76C>T
ENST00000492556.5:n.2189+301C>T
NR_027928.2:n.1551+301C>T
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