Canonical Allele Identifier: CA325536659
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs757896310
MyVariant Identifiers: chr22:g.51017179T>G (hg19) chr22:g.50578750T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578750T>G , CM000684.2:g.50578750T>G GRCh38
NC_000022.10:g.51017179T>G , CM000684.1:g.51017179T>G GRCh37
NC_000022.9:g.49364045T>G NCBI36
NG_012643.1:g.4918A>C
NG_029213.1:g.9250A>C , LRG_855:g.9250A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452668.1:n.320-91A>C
ENST00000453634.5:c.329-91A>C ENSP00000457031.1:n.329-91A>C
ENST00000492556.5:n.2189+286A>C
NR_027928.2:n.1551+286A>C
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