Canonical Allele Identifier: CA246161

Gene: ZNF423

Linked Data

• ClinVar Variation Id: 197817
• ClinVar RCV Id: RCV000178951 ; RCV001078488 ; RCV003937620
• dbSNP Id: rs34425379
• ExAC: 16:49671432 C / A
• gnomAD v2: 16-49671432-C-A
• gnomAD v3: 16-49637521-C-A
• gnomAD v4: 16-49637521-C-A
• MyVariant Identifiers: chr16:g.49671432C>A (hg19) ; chr16:g.49637521C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49637521C>A , CM000678.2:g.49637521C>A	GRCh38
NC_000016.9:g.49671432C>A , CM000678.1:g.49671432C>A	GRCh37
NC_000016.8:g.48228933C>A	NCBI36
NG_032972.1:g.225399G>T
NG_032972.2:g.225399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563137.7:c.1655G>T MANE Select	ENSP00000455588.3:p.Gly552Val
ENST00000262383.6:c.1631G>T	ENSP00000262383.2:p.Gly544Val
ENST00000535559.5:c.1280G>T	ENSP00000442321.1:p.Gly427Val
ENST00000561648.5:c.1631G>T	ENSP00000455426.1:p.Gly544Val
ENST00000562520.1:c.1451G>T	ENSP00000457664.1:p.Gly484Val
ENST00000562871.5:c.1451G>T	ENSP00000457928.1:p.Gly484Val
ENST00000563137.6:c.1451G>T	ENSP00000455588.2:p.Gly484Val
ENST00000567169.5:c.1280G>T	ENSP00000455061.1:p.Gly427Val
NM_001271620.1:c.1451G>T	NP_001258549.1:p.Gly484Val
NM_015069.3:c.1631G>T	NP_055884.2:p.Gly544Val
XM_005255856.3:c.1451G>T	XP_005255913.1:p.Gly484Val
XM_005255857.3:c.1280G>T	XP_005255914.1:p.Gly427Val
XM_006721171.2:c.1676G>T	XP_006721234.1:p.Gly559Val
XM_011522962.1:c.1724G>T	XP_011521264.1:p.Gly575Val
NM_001271620.2:c.1451G>T	NP_001258549.1:p.Gly484Val
NM_001330533.1:c.1280G>T	NP_001317462.1:p.Gly427Val
NM_015069.4:c.1631G>T	NP_055884.2:p.Gly544Val
XM_005255856.4:c.1451G>T	XP_005255913.1:p.Gly484Val
XM_006721171.4:c.1676G>T	XP_006721234.1:p.Gly559Val
XM_017023076.2:c.1655G>T	XP_016878565.1:p.Gly552Val
XM_017023077.1:c.1451G>T	XP_016878566.1:p.Gly484Val
XM_017023078.1:c.1451G>T	XP_016878567.1:p.Gly484Val
NM_001330533.2:c.1280G>T	NP_001317462.1:p.Gly427Val
NM_001379286.1:c.1655G>T MANE Select	NP_001366215.1:p.Gly552Val
NM_015069.5:c.1631G>T	NP_055884.2:p.Gly544Val