Canonical Allele Identifier: CA3954392

Gene: ZBTB24

Linked Data

• ClinVar Variation Id: 252685
• ClinVar RCV Id: RCV000238885 ; RCV000578131 ; RCV000649294 ; RCV002292496
• dbSNP Id: rs147441359
• ExAC: 6:109803084 C / T
• gnomAD v2: 6-109803084-C-T
• gnomAD v3: 6-109481881-C-T
• gnomAD v4: 6-109481881-C-T
• MyVariant Identifiers: chr6:g.109803084C>T (hg19) ; chr6:g.109481881C>T (hg38)
• PubMed: PMID:29255178

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109481881C>T , CM000668.2:g.109481881C>T	GRCh38
NC_000006.11:g.109803084C>T , CM000668.1:g.109803084C>T	GRCh37
NC_000006.10:g.109909777C>T	NCBI36
NG_029388.1:g.6357G>A , LRG_326:g.6357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698513.1:c.146G>A	ENSP00000513763.1:p.Arg49Gln
ENST00000698514.1:c.146G>A	ENSP00000513764.1:p.Arg49Gln
ENST00000698515.1:c.146G>A	ENSP00000513765.1:p.Arg49Gln
ENST00000698516.1:c.146G>A	ENSP00000513766.1:p.Arg49Gln
ENST00000698517.1:n.294G>A
ENST00000698518.1:c.146G>A	ENSP00000513767.1:p.Arg49Gln
ENST00000698519.1:c.146G>A	ENSP00000513768.1:p.Arg49Gln
ENST00000698520.1:c.146G>A	ENSP00000513769.1:p.Arg49Gln
ENST00000230122.4:c.146G>A MANE Select	ENSP00000230122.4:p.Arg49Gln
ENST00000230122.3:c.146G>A	ENSP00000230122.3:p.Arg49Gln
NM_001164313.1:c.146G>A	NP_001157785.1:p.Arg49Gln
NM_014797.2:c.146G>A , LRG_326t1:c.146G>A	NP_055612.2:p.Arg49Gln
NM_014797.3:c.146G>A MANE Select	NP_055612.2:p.Arg49Gln
NM_001164313.2:c.146G>A	NP_001157785.1:p.Arg49Gln