Canonical Allele Identifier: CA345675023

Gene: ZBTB18

Linked Data

• ClinVar Variation Id: 440857
• ClinVar RCV Id: RCV000509048 ; RCV001568212
• dbSNP Id: rs750922282
• MyVariant Identifiers: chr1:g.244218466C>T (hg19) ; chr1:g.244055164C>T (hg38)
• PubMed: PMID:27598823

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244055164C>T , CM000663.2:g.244055164C>T	GRCh38
NC_000001.10:g.244218466C>T , CM000663.1:g.244218466C>T	GRCh37
NC_000001.9:g.242285089C>T	NCBI36
NG_033841.1:g.11226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696615.1:c.*567C>T	ENSP00000512755.1:n.*567C>T
ENST00000696616.1:c.1363C>T	ENSP00000512756.1:p.Arg455Cys
ENST00000696617.1:c.*1320C>T	ENSP00000512757.1:n.*1320C>T
ENST00000696618.1:c.1363C>T	ENSP00000512758.1:p.Arg455Cys
ENST00000358704.4:c.1390C>T MANE Select	ENSP00000351539.4:p.Arg464Cys
ENST00000622512.1:c.1363C>T	ENSP00000481278.1:p.Arg455Cys
NM_001278196.1:c.1363C>T	NP_001265125.1:p.Arg455Cys
NM_006352.4:c.1363C>T	NP_006343.2:p.Arg455Cys
NM_205768.2:c.1390C>T	NP_991331.1:p.Arg464Cys
XM_005273006.2:c.1363C>T	XP_005273063.1:p.Arg455Cys
XM_017000060.1:c.1363C>T	XP_016855549.1:p.Arg455Cys
NM_001278196.2:c.1363C>T	NP_001265125.1:p.Arg455Cys
NM_205768.3:c.1390C>T MANE Select	NP_991331.1:p.Arg464Cys