Canonical Allele Identifier: CA413412302

Gene: ZC4H2

Linked Data

• gnomAD v4: X-64921908-A-G
• MyVariant Identifiers: chrX:g.64141788A>G (hg19) ; chrX:g.64921908A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921908A>G , CM000685.2:g.64921908A>G	GRCh38
NC_000023.10:g.64141788A>G , CM000685.1:g.64141788A>G	GRCh37
NC_000023.9:g.64058513A>G	NCBI36
NG_021200.1:g.59626T>C
NG_021200.2:g.117837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.65T>C	ENSP00000515193.1:p.Leu22Pro
ENST00000492653.6:c.134T>C	ENSP00000515192.1:p.Leu45Pro
ENST00000703133.1:c.*708T>C	ENSP00000515188.1:n.*708T>C
ENST00000703136.1:c.*92T>C	ENSP00000515190.1:n.*92T>C
ENST00000374839.8:c.134T>C MANE Select	ENSP00000363972.3:p.Leu45Pro
ENST00000337990.2:c.65T>C	ENSP00000338650.2:p.Leu22Pro
ENST00000374839.7:c.134T>C	ENSP00000363972.3:p.Leu45Pro
ENST00000447788.6:c.134T>C	ENSP00000399126.2:p.Leu45Pro
ENST00000476032.1:n.375T>C
ENST00000488608.5:n.290T>C
ENST00000488831.5:n.122T>C
ENST00000492653.5:n.230T>C
NM_001178032.2:c.65T>C	NP_001171503.1:p.Leu22Pro
NM_001178033.2:c.134T>C	NP_001171504.1:p.Leu45Pro
NM_001243804.1:c.65T>C	NP_001230733.1:p.Leu22Pro
NM_018684.3:c.134T>C	NP_061154.1:p.Leu45Pro
NR_045044.1:n.545T>C
NM_018684.4:c.134T>C MANE Select	NP_061154.1:p.Leu45Pro
NM_001178032.3:c.65T>C	NP_001171503.1:p.Leu22Pro
NM_001243804.2:c.65T>C	NP_001230733.1:p.Leu22Pro
NR_045044.2:n.462T>C
NM_001178033.3:c.134T>C	NP_001171504.1:p.Leu45Pro