Canonical Allele Identifier: CA413411147
Gene: ZC4H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64917844A>G , CM000685.2:g.64917844A>G GRCh38
NC_000023.10:g.64137724A>G , CM000685.1:g.64137724A>G GRCh37
NC_000023.9:g.64054449A>G NCBI36
NG_021200.1:g.63690T>C
NG_021200.2:g.121901T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000492653.6:c.*238T>C ENSP00000515192.1:n.*238T>C
ENST00000703133.1:c.*1188T>C ENSP00000515188.1:n.*1188T>C
ENST00000703136.1:c.*572T>C ENSP00000515190.1:n.*572T>C
ENST00000374839.8:c.614T>C MANE Select ENSP00000363972.3:p.Leu205Pro
ENST00000337990.2:c.545T>C ENSP00000338650.2:p.Leu182Pro
ENST00000374839.7:c.614T>C ENSP00000363972.3:p.Leu205Pro
ENST00000447788.6:c.451T>C ENSP00000399126.2:p.Phe151Leu
ENST00000488406.1:n.134T>C
ENST00000488608.5:n.2791T>C
ENST00000488831.5:n.602T>C
ENST00000492653.5:n.742T>C
NM_001178032.2:c.545T>C NP_001171503.1:p.Leu182Pro
NM_001178033.2:c.451T>C NP_001171504.1:p.Phe151Leu
NM_001243804.1:c.545T>C NP_001230733.1:p.Leu182Pro
NM_018684.3:c.614T>C NP_061154.1:p.Leu205Pro
NR_045044.1:n.1025T>C
NM_018684.4:c.614T>C MANE Select NP_061154.1:p.Leu205Pro
NM_001178032.3:c.545T>C NP_001171503.1:p.Leu182Pro
NM_001243804.2:c.545T>C NP_001230733.1:p.Leu182Pro
NR_045044.2:n.942T>C
NM_001178033.3:c.451T>C NP_001171504.1:p.Phe151Leu