Canonical Allele Identifier: CA413412260

Gene: ZC4H2

Linked Data

• ClinVar Variation Id: 2660754
• ClinVar RCV Id: RCV003438427
• MyVariant Identifiers: chrX:g.64141771C>G (hg19) ; chrX:g.64921891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921891C>G , CM000685.2:g.64921891C>G	GRCh38
NC_000023.10:g.64141771C>G , CM000685.1:g.64141771C>G	GRCh37
NC_000023.9:g.64058496C>G	NCBI36
NG_021200.1:g.59643G>C
NG_021200.2:g.117854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.82G>C	ENSP00000515193.1:p.Glu28Gln
ENST00000492653.6:c.151G>C	ENSP00000515192.1:p.Glu51Gln
ENST00000703133.1:c.*725G>C	ENSP00000515188.1:n.*725G>C
ENST00000703136.1:c.*109G>C	ENSP00000515190.1:n.*109G>C
ENST00000374839.8:c.151G>C MANE Select	ENSP00000363972.3:p.Glu51Gln
ENST00000337990.2:c.82G>C	ENSP00000338650.2:p.Glu28Gln
ENST00000374839.7:c.151G>C	ENSP00000363972.3:p.Glu51Gln
ENST00000447788.6:c.151G>C	ENSP00000399126.2:p.Glu51Gln
ENST00000476032.1:n.392G>C
ENST00000488608.5:n.307G>C
ENST00000488831.5:n.139G>C
ENST00000492653.5:n.247G>C
NM_001178032.2:c.82G>C	NP_001171503.1:p.Glu28Gln
NM_001178033.2:c.151G>C	NP_001171504.1:p.Glu51Gln
NM_001243804.1:c.82G>C	NP_001230733.1:p.Glu28Gln
NM_018684.3:c.151G>C	NP_061154.1:p.Glu51Gln
NR_045044.1:n.562G>C
NM_018684.4:c.151G>C MANE Select	NP_061154.1:p.Glu51Gln
NM_001178032.3:c.82G>C	NP_001171503.1:p.Glu28Gln
NM_001243804.2:c.82G>C	NP_001230733.1:p.Glu28Gln
NR_045044.2:n.479G>C
NM_001178033.3:c.151G>C	NP_001171504.1:p.Glu51Gln