Canonical Allele Identifier: CA345673314

Gene: ZBTB18

Linked Data

• gnomAD v4: 1-244054389-G-C
• MyVariant Identifiers: chr1:g.244217691G>C (hg19) ; chr1:g.244054389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244054389G>C , CM000663.2:g.244054389G>C	GRCh38
NC_000001.10:g.244217691G>C , CM000663.1:g.244217691G>C	GRCh37
NC_000001.9:g.242284314G>C	NCBI36
NG_033841.1:g.10451G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696615.1:c.588G>C	ENSP00000512755.1:p.Gln196His
ENST00000696616.1:c.588G>C	ENSP00000512756.1:p.Gln196His
ENST00000696617.1:c.*545G>C	ENSP00000512757.1:n.*545G>C
ENST00000696618.1:c.588G>C	ENSP00000512758.1:p.Gln196His
ENST00000358704.4:c.615G>C MANE Select	ENSP00000351539.4:p.Gln205His
ENST00000622512.1:c.588G>C	ENSP00000481278.1:p.Gln196His
NM_001278196.1:c.588G>C	NP_001265125.1:p.Gln196His
NM_006352.4:c.588G>C	NP_006343.2:p.Gln196His
NM_205768.2:c.615G>C	NP_991331.1:p.Gln205His
XM_005273006.2:c.588G>C	XP_005273063.1:p.Gln196His
XM_017000060.1:c.588G>C	XP_016855549.1:p.Gln196His
NM_001278196.2:c.588G>C	NP_001265125.1:p.Gln196His
NM_205768.3:c.615G>C MANE Select	NP_991331.1:p.Gln205His