Canonical Allele Identifier: CA16621459
Gene: ZC4H2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422398
ClinVar RCV Id: RCV000484141 RCV001034716
dbSNP Id: rs1064795753
MyVariant Identifiers: chrX:g.64137721C>A (hg19) chrX:g.64917841C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64917841C>A , CM000685.2:g.64917841C>A GRCh38
NC_000023.10:g.64137721C>A , CM000685.1:g.64137721C>A GRCh37
NC_000023.9:g.64054446C>A NCBI36
NG_021200.1:g.63693G>T
NG_021200.2:g.121904G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000492653.6:c.*241G>T ENSP00000515192.1:n.*241G>T
ENST00000703133.1:c.*1191G>T ENSP00000515188.1:n.*1191G>T
ENST00000703136.1:c.*575G>T ENSP00000515190.1:n.*575G>T
ENST00000374839.8:c.617G>T MANE Select ENSP00000363972.3:p.Cys206Phe
ENST00000337990.2:c.548G>T ENSP00000338650.2:p.Cys183Phe
ENST00000374839.7:c.617G>T ENSP00000363972.3:p.Cys206Phe
ENST00000447788.6:c.454G>T ENSP00000399126.2:p.Ala152Ser
ENST00000488406.1:n.137G>T
ENST00000488608.5:n.2794G>T
ENST00000488831.5:n.605G>T
ENST00000492653.5:n.745G>T
NM_001178032.2:c.548G>T NP_001171503.1:p.Cys183Phe
NM_001178033.2:c.454G>T NP_001171504.1:p.Ala152Ser
NM_001243804.1:c.548G>T NP_001230733.1:p.Cys183Phe
NM_018684.3:c.617G>T NP_061154.1:p.Cys206Phe
NR_045044.1:n.1028G>T
NM_018684.4:c.617G>T MANE Select NP_061154.1:p.Cys206Phe
NM_001178032.3:c.548G>T NP_001171503.1:p.Cys183Phe
NM_001243804.2:c.548G>T NP_001230733.1:p.Cys183Phe
NR_045044.2:n.945G>T
NM_001178033.3:c.454G>T NP_001171504.1:p.Ala152Ser
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