Canonical Allele Identifier: CA1026670252
Gene: CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs3810647
gnomAD v3: 22-50578738-G-T
gnomAD v4: 22-50578738-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50578738G>T , CM000684.2:g.50578738G>T GRCh38
NC_000022.10:g.51017167G>T , CM000684.1:g.51017167G>T GRCh37
NC_000022.9:g.49364033G>T NCBI36
NG_012643.1:g.4930C>A
NG_029213.1:g.9262C>A , LRG_855:g.9262C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452668.1:n.320-79C>A
ENST00000453634.5:c.329-79C>A ENSP00000457031.1:n.329-79C>A
ENST00000492556.5:n.2189+298C>A
NR_027928.2:n.1551+298C>A
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