Canonical Allele Identifier: CA10433475

Gene: ZC4H2

Linked Data

• dbSNP Id: rs747170320
• ExAC: X:64141724 G / T
• gnomAD v2: X-64141724-G-T
• gnomAD v3: X-64921844-G-T
• gnomAD v4: X-64921844-G-T
• MyVariant Identifiers: chrX:g.64141724G>T (hg19) ; chrX:g.64921844G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921844G>T , CM000685.2:g.64921844G>T	GRCh38
NC_000023.10:g.64141724G>T , CM000685.1:g.64141724G>T	GRCh37
NC_000023.9:g.64058449G>T	NCBI36
NG_021200.1:g.59690C>A
NG_021200.2:g.117901C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.129C>A	ENSP00000515193.1:p.Leu43=
ENST00000492653.6:c.198C>A	ENSP00000515192.1:p.Leu66=
ENST00000703133.1:c.*772C>A	ENSP00000515188.1:n.*772C>A
ENST00000703136.1:c.*156C>A	ENSP00000515190.1:n.*156C>A
ENST00000374839.8:c.198C>A MANE Select	ENSP00000363972.3:p.Leu66=
ENST00000337990.2:c.129C>A	ENSP00000338650.2:p.Leu43=
ENST00000374839.7:c.198C>A	ENSP00000363972.3:p.Leu66=
ENST00000447788.6:c.198C>A	ENSP00000399126.2:p.Leu66=
ENST00000476032.1:n.439C>A
ENST00000488608.5:n.354C>A
ENST00000488831.5:n.186C>A
ENST00000492653.5:n.294C>A
NM_001178032.2:c.129C>A	NP_001171503.1:p.Leu43=
NM_001178033.2:c.198C>A	NP_001171504.1:p.Leu66=
NM_001243804.1:c.129C>A	NP_001230733.1:p.Leu43=
NM_018684.3:c.198C>A	NP_061154.1:p.Leu66=
NR_045044.1:n.609C>A
NM_018684.4:c.198C>A MANE Select	NP_061154.1:p.Leu66=
NM_001178032.3:c.129C>A	NP_001171503.1:p.Leu43=
NM_001243804.2:c.129C>A	NP_001230733.1:p.Leu43=
NR_045044.2:n.526C>A
NM_001178033.3:c.198C>A	NP_001171504.1:p.Leu66=