Canonical Allele Identifier: CA754071743
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs1431283201
gnomAD v4: 22-50578733-C-T
MyVariant Identifiers: chr22:g.51017162C>T (hg19) chr22:g.50578733C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578733C>T , CM000684.2:g.50578733C>T GRCh38
NC_000022.10:g.51017162C>T , CM000684.1:g.51017162C>T GRCh37
NC_000022.9:g.49364028C>T NCBI36
NG_012643.1:g.4935G>A
NG_029213.1:g.9267G>A , LRG_855:g.9267G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452668.1:n.320-74G>A
ENST00000453634.5:c.329-74G>A ENSP00000457031.1:n.329-74G>A
ENST00000492556.5:n.2189+303G>A
NR_027928.2:n.1551+303G>A
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