Canonical Allele Identifier: CA413411177
Gene: ZC4H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64917854T>G , CM000685.2:g.64917854T>G GRCh38
NC_000023.10:g.64137734T>G , CM000685.1:g.64137734T>G GRCh37
NC_000023.9:g.64054459T>G NCBI36
NG_021200.1:g.63680A>C
NG_021200.2:g.121891A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000492653.6:c.*228A>C ENSP00000515192.1:n.*228A>C
ENST00000703133.1:c.*1178A>C ENSP00000515188.1:n.*1178A>C
ENST00000703136.1:c.*562A>C ENSP00000515190.1:n.*562A>C
ENST00000374839.8:c.604A>C MANE Select ENSP00000363972.3:p.Ile202Leu
ENST00000337990.2:c.535A>C ENSP00000338650.2:p.Ile179Leu
ENST00000374839.7:c.604A>C ENSP00000363972.3:p.Ile202Leu
ENST00000447788.6:c.441A>C ENSP00000399126.2:p.Leu147=
ENST00000488406.1:n.124A>C
ENST00000488608.5:n.2781A>C
ENST00000488831.5:n.592A>C
ENST00000492653.5:n.732A>C
NM_001178032.2:c.535A>C NP_001171503.1:p.Ile179Leu
NM_001178033.2:c.441A>C NP_001171504.1:p.Leu147=
NM_001243804.1:c.535A>C NP_001230733.1:p.Ile179Leu
NM_018684.3:c.604A>C NP_061154.1:p.Ile202Leu
NR_045044.1:n.1015A>C
NM_018684.4:c.604A>C MANE Select NP_061154.1:p.Ile202Leu
NM_001178032.3:c.535A>C NP_001171503.1:p.Ile179Leu
NM_001243804.2:c.535A>C NP_001230733.1:p.Ile179Leu
NR_045044.2:n.932A>C
NM_001178033.3:c.441A>C NP_001171504.1:p.Leu147=