Canonical Allele Identifier: CA204622
Gene: ZC4H2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208658
ClinVar RCV Id: RCV000190667
dbSNP Id: rs797044863
MyVariant Identifiers: chrX:g.64141774G>A (hg19) chrX:g.64921894G>A (hg38)
PubMed: PMID:23623388 PMID:26056227
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64921894G>A , CM000685.2:g.64921894G>A GRCh38
NC_000023.10:g.64141774G>A , CM000685.1:g.64141774G>A GRCh37
NC_000023.9:g.64058499G>A NCBI36
NG_021200.1:g.59640C>T
NG_021200.2:g.117851C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000476032.2:c.79C>T ENSP00000515193.1:p.Gln27Ter
ENST00000492653.6:c.148C>T ENSP00000515192.1:p.Gln50Ter
ENST00000703133.1:c.*722C>T ENSP00000515188.1:n.*722C>T
ENST00000703136.1:c.*106C>T ENSP00000515190.1:n.*106C>T
ENST00000374839.8:c.148C>T MANE Select ENSP00000363972.3:p.Gln50Ter
ENST00000337990.2:c.79C>T ENSP00000338650.2:p.Gln27Ter
ENST00000374839.7:c.148C>T ENSP00000363972.3:p.Gln50Ter
ENST00000447788.6:c.148C>T ENSP00000399126.2:p.Gln50Ter
ENST00000476032.1:n.389C>T
ENST00000488608.5:n.304C>T
ENST00000488831.5:n.136C>T
ENST00000492653.5:n.244C>T
NM_001178032.2:c.79C>T NP_001171503.1:p.Gln27Ter
NM_001178033.2:c.148C>T NP_001171504.1:p.Gln50Ter
NM_001243804.1:c.79C>T NP_001230733.1:p.Gln27Ter
NM_018684.3:c.148C>T NP_061154.1:p.Gln50Ter
NR_045044.1:n.559C>T
NM_018684.4:c.148C>T MANE Select NP_061154.1:p.Gln50Ter
NM_001178032.3:c.79C>T NP_001171503.1:p.Gln27Ter
NM_001243804.2:c.79C>T NP_001230733.1:p.Gln27Ter
NR_045044.2:n.476C>T
NM_001178033.3:c.148C>T NP_001171504.1:p.Gln50Ter
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