Canonical Allele Identifier: CA413412111
Gene: ZC4H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64921825T>G , CM000685.2:g.64921825T>G GRCh38
NC_000023.10:g.64141705T>G , CM000685.1:g.64141705T>G GRCh37
NC_000023.9:g.64058430T>G NCBI36
NG_021200.1:g.59709A>C
NG_021200.2:g.117920A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476032.2:c.148A>C ENSP00000515193.1:p.Ile50Leu
ENST00000492653.6:c.217A>C ENSP00000515192.1:p.Ile73Leu
ENST00000703133.1:c.*791A>C ENSP00000515188.1:n.*791A>C
ENST00000703136.1:c.*175A>C ENSP00000515190.1:n.*175A>C
ENST00000374839.8:c.217A>C MANE Select ENSP00000363972.3:p.Ile73Leu
ENST00000337990.2:c.148A>C ENSP00000338650.2:p.Ile50Leu
ENST00000374839.7:c.217A>C ENSP00000363972.3:p.Ile73Leu
ENST00000447788.6:c.217A>C ENSP00000399126.2:p.Ile73Leu
ENST00000476032.1:n.458A>C
ENST00000488608.5:n.373A>C
ENST00000488831.5:n.205A>C
ENST00000492653.5:n.313A>C
NM_001178032.2:c.148A>C NP_001171503.1:p.Ile50Leu
NM_001178033.2:c.217A>C NP_001171504.1:p.Ile73Leu
NM_001243804.1:c.148A>C NP_001230733.1:p.Ile50Leu
NM_018684.3:c.217A>C NP_061154.1:p.Ile73Leu
NR_045044.1:n.628A>C
NM_018684.4:c.217A>C MANE Select NP_061154.1:p.Ile73Leu
NM_001178032.3:c.148A>C NP_001171503.1:p.Ile50Leu
NM_001243804.2:c.148A>C NP_001230733.1:p.Ile50Leu
NR_045044.2:n.545A>C
NM_001178033.3:c.217A>C NP_001171504.1:p.Ile73Leu