Canonical Allele Identifier: CA413412338

Gene: ZC4H2

Linked Data

• dbSNP Id: rs1490919537
• gnomAD v2: X-64141803-G-A
• gnomAD v3: X-64921923-G-A
• gnomAD v4: X-64921923-G-A
• COSMIC: COSM77063 ; COSM4947719
• MyVariant Identifiers: chrX:g.64141803G>A (hg19) ; chrX:g.64921923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64921923G>A , CM000685.2:g.64921923G>A	GRCh38
NC_000023.10:g.64141803G>A , CM000685.1:g.64141803G>A	GRCh37
NC_000023.9:g.64058528G>A	NCBI36
NG_021200.1:g.59611C>T
NG_021200.2:g.117822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476032.2:c.50C>T	ENSP00000515193.1:p.Ser17Leu
ENST00000492653.6:c.119C>T	ENSP00000515192.1:p.Ser40Leu
ENST00000703133.1:c.*693C>T	ENSP00000515188.1:n.*693C>T
ENST00000703136.1:c.*77C>T	ENSP00000515190.1:n.*77C>T
ENST00000374839.8:c.119C>T MANE Select	ENSP00000363972.3:p.Ser40Leu
ENST00000337990.2:c.50C>T	ENSP00000338650.2:p.Ser17Leu
ENST00000374839.7:c.119C>T	ENSP00000363972.3:p.Ser40Leu
ENST00000447788.6:c.119C>T	ENSP00000399126.2:p.Ser40Leu
ENST00000476032.1:n.360C>T
ENST00000488608.5:n.275C>T
ENST00000488831.5:n.107C>T
ENST00000492653.5:n.215C>T
NM_001178032.2:c.50C>T	NP_001171503.1:p.Ser17Leu
NM_001178033.2:c.119C>T	NP_001171504.1:p.Ser40Leu
NM_001243804.1:c.50C>T	NP_001230733.1:p.Ser17Leu
NM_018684.3:c.119C>T	NP_061154.1:p.Ser40Leu
NR_045044.1:n.530C>T
NM_018684.4:c.119C>T MANE Select	NP_061154.1:p.Ser40Leu
NM_001178032.3:c.50C>T	NP_001171503.1:p.Ser17Leu
NM_001243804.2:c.50C>T	NP_001230733.1:p.Ser17Leu
NR_045044.2:n.447C>T
NM_001178033.3:c.119C>T	NP_001171504.1:p.Ser40Leu