Canonical Allele Identifier: CA345673293

Gene: ZBTB18

Linked Data

• ClinVar Variation Id: 2737995
• ClinVar RCV Id: RCV003562475
• gnomAD v4: 1-244054379-G-A
• MyVariant Identifiers: chr1:g.244217681G>A (hg19) ; chr1:g.244054379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244054379G>A , CM000663.2:g.244054379G>A	GRCh38
NC_000001.10:g.244217681G>A , CM000663.1:g.244217681G>A	GRCh37
NC_000001.9:g.242284304G>A	NCBI36
NG_033841.1:g.10441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696615.1:c.578G>A	ENSP00000512755.1:p.Gly193Asp
ENST00000696616.1:c.578G>A	ENSP00000512756.1:p.Gly193Asp
ENST00000696617.1:c.*535G>A	ENSP00000512757.1:n.*535G>A
ENST00000696618.1:c.578G>A	ENSP00000512758.1:p.Gly193Asp
ENST00000358704.4:c.605G>A MANE Select	ENSP00000351539.4:p.Gly202Asp
ENST00000622512.1:c.578G>A	ENSP00000481278.1:p.Gly193Asp
NM_001278196.1:c.578G>A	NP_001265125.1:p.Gly193Asp
NM_006352.4:c.578G>A	NP_006343.2:p.Gly193Asp
NM_205768.2:c.605G>A	NP_991331.1:p.Gly202Asp
XM_005273006.2:c.578G>A	XP_005273063.1:p.Gly193Asp
XM_017000060.1:c.578G>A	XP_016855549.1:p.Gly193Asp
NM_001278196.2:c.578G>A	NP_001265125.1:p.Gly193Asp
NM_205768.3:c.605G>A MANE Select	NP_991331.1:p.Gly202Asp