Canonical Allele Identifier: CA1484325

Gene: ZBTB18

Linked Data

• ClinVar Variation Id: 1976538
• ClinVar RCV Id: RCV002760930
• dbSNP Id: rs757386351
• ExAC: 1:244217696 G / A
• gnomAD v2: 1-244217696-G-A
• gnomAD v3: 1-244054394-G-A
• gnomAD v4: 1-244054394-G-A
• MyVariant Identifiers: chr1:g.244217696G>A (hg19) ; chr1:g.244054394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244054394G>A , CM000663.2:g.244054394G>A	GRCh38
NC_000001.10:g.244217696G>A , CM000663.1:g.244217696G>A	GRCh37
NC_000001.9:g.242284319G>A	NCBI36
NG_033841.1:g.10456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696615.1:c.593G>A	ENSP00000512755.1:p.Gly198Asp
ENST00000696616.1:c.593G>A	ENSP00000512756.1:p.Gly198Asp
ENST00000696617.1:c.*550G>A	ENSP00000512757.1:n.*550G>A
ENST00000696618.1:c.593G>A	ENSP00000512758.1:p.Gly198Asp
ENST00000358704.4:c.620G>A MANE Select	ENSP00000351539.4:p.Gly207Asp
ENST00000622512.1:c.593G>A	ENSP00000481278.1:p.Gly198Asp
NM_001278196.1:c.593G>A	NP_001265125.1:p.Gly198Asp
NM_006352.4:c.593G>A	NP_006343.2:p.Gly198Asp
NM_205768.2:c.620G>A	NP_991331.1:p.Gly207Asp
XM_005273006.2:c.593G>A	XP_005273063.1:p.Gly198Asp
XM_017000060.1:c.593G>A	XP_016855549.1:p.Gly198Asp
NM_001278196.2:c.593G>A	NP_001265125.1:p.Gly198Asp
NM_205768.3:c.620G>A MANE Select	NP_991331.1:p.Gly207Asp