Canonical Allele Identifier: CA413411972

Gene: ZC4H2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64920210A>G , CM000685.2:g.64920210A>G	GRCh38
NC_000023.10:g.64140090A>G , CM000685.1:g.64140090A>G	GRCh37
NC_000023.9:g.64056815A>G	NCBI36
NG_021200.1:g.61324T>C
NG_021200.2:g.119535T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018684.4:c.269T>C MANE Select	NP_061154.1:p.Leu90Pro
ENST00000374839.8:c.269T>C MANE Select	ENSP00000363972.3:p.Leu90Pro
NM_001178032.2:c.200T>C	NP_001171503.1:p.Leu67Pro
NM_001178032.3:c.200T>C	NP_001171503.1:p.Leu67Pro
NM_001178033.2:c.269T>C	NP_001171504.1:p.Leu90Pro
NM_001178033.3:c.269T>C	NP_001171504.1:p.Leu90Pro
NM_001243804.1:c.200T>C	NP_001230733.1:p.Leu67Pro
NM_001243804.2:c.200T>C	NP_001230733.1:p.Leu67Pro
NM_018684.3:c.269T>C	NP_061154.1:p.Leu90Pro
NR_045044.1:n.680T>C
NR_045044.2:n.597T>C
ENST00000337990.2:c.200T>C	ENSP00000338650.2:p.Leu67Pro
ENST00000374839.7:c.269T>C	ENSP00000363972.3:p.Leu90Pro
ENST00000447788.6:c.269T>C	ENSP00000399126.2:p.Leu90Pro
ENST00000476032.1:n.510T>C
ENST00000476032.2:c.200T>C	ENSP00000515193.1:p.Leu67Pro
ENST00000488608.5:n.425T>C
ENST00000488831.5:n.257T>C
ENST00000492653.5:n.365T>C
ENST00000492653.6:c.269T>C	ENSP00000515192.1:p.Leu90Pro
ENST00000703133.1:c.*843T>C	ENSP00000515188.1:n.*843T>C
ENST00000703136.1:c.*227T>C	ENSP00000515190.1:n.*227T>C