Canonical Allele Identifier: CA10433483

Gene: ZC4H2

Linked Data

• dbSNP Id: rs772877929
• ExAC: X:64141807 C / T
• gnomAD v2: X-64141807-C-T
• gnomAD v4: X-64921927-C-T
• MyVariant Identifiers: chrX:g.64141807C>T (hg19) ; chrX:g.64921927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921927C>T , CM000685.2:g.64921927C>T	GRCh38
NC_000023.10:g.64141807C>T , CM000685.1:g.64141807C>T	GRCh37
NC_000023.9:g.64058532C>T	NCBI36
NG_021200.1:g.59607G>A
NG_021200.2:g.117818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.46G>A	ENSP00000515193.1:p.Glu16Lys
ENST00000492653.6:c.115G>A	ENSP00000515192.1:p.Glu39Lys
ENST00000703133.1:c.*689G>A	ENSP00000515188.1:n.*689G>A
ENST00000703136.1:c.*73G>A	ENSP00000515190.1:n.*73G>A
ENST00000374839.8:c.115G>A MANE Select	ENSP00000363972.3:p.Glu39Lys
ENST00000337990.2:c.46G>A	ENSP00000338650.2:p.Glu16Lys
ENST00000374839.7:c.115G>A	ENSP00000363972.3:p.Glu39Lys
ENST00000447788.6:c.115G>A	ENSP00000399126.2:p.Glu39Lys
ENST00000476032.1:n.356G>A
ENST00000488608.5:n.271G>A
ENST00000488831.5:n.103G>A
ENST00000492653.5:n.211G>A
NM_001178032.2:c.46G>A	NP_001171503.1:p.Glu16Lys
NM_001178033.2:c.115G>A	NP_001171504.1:p.Glu39Lys
NM_001243804.1:c.46G>A	NP_001230733.1:p.Glu16Lys
NM_018684.3:c.115G>A	NP_061154.1:p.Glu39Lys
NR_045044.1:n.526G>A
NM_018684.4:c.115G>A MANE Select	NP_061154.1:p.Glu39Lys
NM_001178032.3:c.46G>A	NP_001171503.1:p.Glu16Lys
NM_001243804.2:c.46G>A	NP_001230733.1:p.Glu16Lys
NR_045044.2:n.443G>A
NM_001178033.3:c.115G>A	NP_001171504.1:p.Glu39Lys