Canonical Allele Identifier: CA413411192
Gene: ZC4H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64917860C>A , CM000685.2:g.64917860C>A GRCh38
NC_000023.10:g.64137740C>A , CM000685.1:g.64137740C>A GRCh37
NC_000023.9:g.64054465C>A NCBI36
NG_021200.1:g.63674G>T
NG_021200.2:g.121885G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476032.2:c.529G>T ENSP00000515193.1:p.Ala177Ser
ENST00000492653.6:c.*222G>T ENSP00000515192.1:n.*222G>T
ENST00000703133.1:c.*1172G>T ENSP00000515188.1:n.*1172G>T
ENST00000703136.1:c.*556G>T ENSP00000515190.1:n.*556G>T
ENST00000374839.8:c.598G>T MANE Select ENSP00000363972.3:p.Ala200Ser
ENST00000337990.2:c.529G>T ENSP00000338650.2:p.Ala177Ser
ENST00000374839.7:c.598G>T ENSP00000363972.3:p.Ala200Ser
ENST00000447788.6:c.435G>T ENSP00000399126.2:p.Met145Ile
ENST00000476032.1:n.839G>T
ENST00000488406.1:n.118G>T
ENST00000488608.5:n.2775G>T
ENST00000488831.5:n.586G>T
ENST00000492653.5:n.726G>T
NM_001178032.2:c.529G>T NP_001171503.1:p.Ala177Ser
NM_001178033.2:c.435G>T NP_001171504.1:p.Met145Ile
NM_001243804.1:c.529G>T NP_001230733.1:p.Ala177Ser
NM_018684.3:c.598G>T NP_061154.1:p.Ala200Ser
NR_045044.1:n.1009G>T
NM_018684.4:c.598G>T MANE Select NP_061154.1:p.Ala200Ser
NM_001178032.3:c.529G>T NP_001171503.1:p.Ala177Ser
NM_001243804.2:c.529G>T NP_001230733.1:p.Ala177Ser
NR_045044.2:n.926G>T
NM_001178033.3:c.435G>T NP_001171504.1:p.Met145Ile