Canonical Allele Identifier: CA413411145

Gene: ZC4H2

Linked Data

• ClinVar Variation Id: 2837418
• ClinVar RCV Id: RCV003692541
• MyVariant Identifiers: chrX:g.64137723A>G (hg19) ; chrX:g.64917843A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64917843A>G , CM000685.2:g.64917843A>G	GRCh38
NC_000023.10:g.64137723A>G , CM000685.1:g.64137723A>G	GRCh37
NC_000023.9:g.64054448A>G	NCBI36
NG_021200.1:g.63691T>C
NG_021200.2:g.121902T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492653.6:c.*239T>C	ENSP00000515192.1:n.*239T>C
ENST00000703133.1:c.*1189T>C	ENSP00000515188.1:n.*1189T>C
ENST00000703136.1:c.*573T>C	ENSP00000515190.1:n.*573T>C
ENST00000374839.8:c.615T>C MANE Select	ENSP00000363972.3:p.Leu205=
ENST00000337990.2:c.546T>C	ENSP00000338650.2:p.Leu182=
ENST00000374839.7:c.615T>C	ENSP00000363972.3:p.Leu205=
ENST00000447788.6:c.452T>C	ENSP00000399126.2:p.Phe151Ser
ENST00000488406.1:n.135T>C
ENST00000488608.5:n.2792T>C
ENST00000488831.5:n.603T>C
ENST00000492653.5:n.743T>C
NM_001178032.2:c.546T>C	NP_001171503.1:p.Leu182=
NM_001178033.2:c.452T>C	NP_001171504.1:p.Phe151Ser
NM_001243804.1:c.546T>C	NP_001230733.1:p.Leu182=
NM_018684.3:c.615T>C	NP_061154.1:p.Leu205=
NR_045044.1:n.1026T>C
NM_018684.4:c.615T>C MANE Select	NP_061154.1:p.Leu205=
NM_001178032.3:c.546T>C	NP_001171503.1:p.Leu182=
NM_001243804.2:c.546T>C	NP_001230733.1:p.Leu182=
NR_045044.2:n.943T>C
NM_001178033.3:c.452T>C	NP_001171504.1:p.Phe151Ser