Canonical Allele Identifier: CA404220702

Gene: ZNF442

Linked Data

• ClinVar Variation Id: 2490208
• ClinVar RCV Id: RCV004273828
• gnomAD v4: 19-12350635-C-G
• MyVariant Identifiers: chr19:g.12461449C>G (hg19) ; chr19:g.12350635C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12350635C>G , CM000681.2:g.12350635C>G	GRCh38
NC_000019.9:g.12461449C>G , CM000681.1:g.12461449C>G	GRCh37
NC_000019.8:g.12322449C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242804.9:c.950G>C MANE Select	ENSP00000242804.4:p.Gly317Ala
ENST00000242804.8:c.950G>C	ENSP00000242804.4:p.Gly317Ala
ENST00000438182.5:c.743G>C	ENSP00000388634.1:p.Gly248Ala
ENST00000545749.2:c.950G>C	ENSP00000440162.2:p.Gly317Ala
NM_030824.2:c.950G>C	NP_110451.1:p.Gly317Ala
XM_006722907.1:c.929G>C	XP_006722970.1:p.Gly310Ala
XM_006722908.2:c.929G>C	XP_006722971.1:p.Gly310Ala
NM_001363774.1:c.743G>C	NP_001350703.1:p.Gly248Ala
XM_006722908.3:c.929G>C	XP_006722971.1:p.Gly310Ala
XM_017027316.1:c.974G>C	XP_016882805.1:p.Gly325Ala
XM_017027317.1:c.779G>C	XP_016882806.1:p.Gly260Ala
XM_017027318.2:c.950G>C	XP_016882807.1:p.Gly317Ala
NM_030824.3:c.950G>C MANE Select	NP_110451.1:p.Gly317Ala
NM_001363774.2:c.743G>C	NP_001350703.1:p.Gly248Ala