Canonical Allele Identifier: CA10433476
Gene: ZC4H2 HGNC NCBI

Linked Data

dbSNP Id: rs149976823
gnomAD v2: X-64141759-G-A
gnomAD v3: X-64921879-G-A
gnomAD v4: X-64921879-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64921879G>A , CM000685.2:g.64921879G>A GRCh38
NC_000023.10:g.64141759G>A , CM000685.1:g.64141759G>A GRCh37
NC_000023.9:g.64058484G>A NCBI36
NG_021200.1:g.59655C>T
NG_021200.2:g.117866C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476032.2:c.94C>T ENSP00000515193.1:p.Leu32=
ENST00000492653.6:c.163C>T ENSP00000515192.1:p.Leu55=
ENST00000703133.1:c.*737C>T ENSP00000515188.1:n.*737C>T
ENST00000703136.1:c.*121C>T ENSP00000515190.1:n.*121C>T
ENST00000374839.8:c.163C>T MANE Select ENSP00000363972.3:p.Leu55=
ENST00000337990.2:c.94C>T ENSP00000338650.2:p.Leu32=
ENST00000374839.7:c.163C>T ENSP00000363972.3:p.Leu55=
ENST00000447788.6:c.163C>T ENSP00000399126.2:p.Leu55=
ENST00000476032.1:n.404C>T
ENST00000488608.5:n.319C>T
ENST00000488831.5:n.151C>T
ENST00000492653.5:n.259C>T
NM_001178032.2:c.94C>T NP_001171503.1:p.Leu32=
NM_001178033.2:c.163C>T NP_001171504.1:p.Leu55=
NM_001243804.1:c.94C>T NP_001230733.1:p.Leu32=
NM_018684.3:c.163C>T NP_061154.1:p.Leu55=
NR_045044.1:n.574C>T
NM_018684.4:c.163C>T MANE Select NP_061154.1:p.Leu55=
NM_001178032.3:c.94C>T NP_001171503.1:p.Leu32=
NM_001243804.2:c.94C>T NP_001230733.1:p.Leu32=
NR_045044.2:n.491C>T
NM_001178033.3:c.163C>T NP_001171504.1:p.Leu55=