Canonical Allele Identifier: CA248396

Gene: ZNF83 ZNF701

Linked Data

• ClinVar Variation Id: 156704
• ClinVar RCV Id: RCV000190282
• dbSNP Id: rs575275768
• MyVariant Identifiers: chr19:g.53116994T>G (hg19) ; chr19:g.52613741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52613741T>G , CM000681.2:g.52613741T>G	GRCh38
NC_000019.9:g.53116994T>G , CM000681.1:g.53116994T>G	GRCh37
NC_000019.8:g.57808806T>G	NCBI36
NG_052996.1:g.81841A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600714.6:c.*257+917A>C (ZNF83)	ENSP00000472392.2:n.*257+917A>C
ENST00000706195.1:c.*1266A>C (ZNF83)	ENSP00000516270.1:n.*1266A>C
ENST00000706196.1:c.*1174A>C (ZNF83)	ENSP00000516271.1:n.*1174A>C
ENST00000706197.1:c.*881A>C (ZNF83)	ENSP00000516272.1:n.*881A>C
ENST00000706198.1:c.*1445A>C (ZNF83)	ENSP00000516273.1:n.*1445A>C
ENST00000706199.1:c.*979A>C (ZNF83)	ENSP00000516274.1:n.*979A>C
ENST00000301096.8:c.824A>C (ZNF83) MANE Select	ENSP00000301096.3:p.His275Pro
ENST00000536937.6:c.*881A>C (ZNF83)	ENSP00000445993.2:n.*881A>C
ENST00000597161.6:c.*1044A>C (ZNF83)	ENSP00000473096.1:n.*1044A>C
ENST00000687234.1:c.*881A>C (ZNF83)	ENSP00000509087.1:n.*881A>C
ENST00000301096.7:c.824A>C (ZNF83)	ENSP00000301096.3:p.His275Pro
ENST00000536937.5:c.824A>C (ZNF83)	ENSP00000445993.1:p.His275Pro
ENST00000541777.6:c.824A>C (ZNF83)	ENSP00000439681.1:p.His275Pro
ENST00000545872.1:c.824A>C (ZNF83)	ENSP00000440713.1:p.His275Pro
ENST00000594682.6:c.*881A>C (ZNF83)	ENSP00000472147.1:n.*881A>C
ENST00000597597.1:c.824A>C (ZNF83)	ENSP00000472619.1:p.His275Pro
ENST00000600714.5:c.282+917A>C (ZNF83)	ENSP00000472392.1:n.282+917A>C
ENST00000601257.5:c.142+5195A>C (ZNF83)	ENSP00000471703.1:n.142+5195A>C
NM_001105549.1:c.824A>C (ZNF83)	NP_001099019.1:p.His275Pro
NM_001105550.1:c.824A>C (ZNF83)	NP_001099020.1:p.His275Pro
NM_001105551.1:c.824A>C (ZNF83)	NP_001099021.1:p.His275Pro
NM_001105552.1:c.824A>C (ZNF83)	NP_001099022.1:p.His275Pro
NM_001277945.1:c.824A>C (ZNF83)	NP_001264874.1:p.His275Pro
NM_001277946.1:c.824A>C (ZNF83)	NP_001264875.1:p.His275Pro
NM_001277947.1:c.824A>C (ZNF83)	NP_001264876.1:p.His275Pro
NM_001277948.1:c.824A>C (ZNF83)	NP_001264877.1:p.His275Pro
NM_001277949.1:c.824A>C (ZNF83)	NP_001264878.1:p.His275Pro
NM_001277951.1:c.824A>C (ZNF83)	NP_001264880.1:p.His275Pro
NM_001277952.1:c.824A>C (ZNF83)	NP_001264881.1:p.His275Pro
NM_018300.3:c.824A>C (ZNF83)	NP_060770.3:p.His275Pro
XM_011527097.1:c.824A>C (ZNF83)	XP_011525399.1:p.His275Pro
XR_936055.1:n.216-7358T>G
XR_936056.1:n.216-7358T>G
NM_001348015.1:c.824A>C (ZNF83)	NP_001334944.1:p.His275Pro
NM_001348016.1:c.824A>C (ZNF83)	NP_001334945.1:p.His275Pro
NM_001348017.1:c.824A>C (ZNF83)	NP_001334946.1:p.His275Pro
NM_001348018.1:c.824A>C (ZNF83)	NP_001334947.1:p.His275Pro
NM_001348019.1:c.824A>C (ZNF83)	NP_001334948.1:p.His275Pro
XR_001753718.2:n.2465-7358T>G (ZNF701)
NM_001105549.2:c.824A>C (ZNF83)	NP_001099019.1:p.His275Pro
NM_001105550.2:c.824A>C (ZNF83)	NP_001099020.1:p.His275Pro
NM_001105551.2:c.824A>C (ZNF83)	NP_001099021.1:p.His275Pro
NM_001105552.2:c.824A>C (ZNF83)	NP_001099022.1:p.His275Pro
NM_001277945.2:c.824A>C (ZNF83)	NP_001264874.1:p.His275Pro
NM_001277946.2:c.824A>C (ZNF83)	NP_001264875.1:p.His275Pro
NM_001277947.2:c.824A>C (ZNF83)	NP_001264876.1:p.His275Pro
NM_001277948.2:c.824A>C (ZNF83)	NP_001264877.1:p.His275Pro
NM_001277949.2:c.824A>C (ZNF83)	NP_001264878.1:p.His275Pro
NM_001277951.2:c.824A>C (ZNF83)	NP_001264880.1:p.His275Pro
NM_001277952.2:c.824A>C (ZNF83)	NP_001264881.1:p.His275Pro
NM_001348015.2:c.824A>C (ZNF83)	NP_001334944.1:p.His275Pro
NM_001348016.2:c.824A>C (ZNF83)	NP_001334945.1:p.His275Pro
NM_001348017.2:c.824A>C (ZNF83)	NP_001334946.1:p.His275Pro
NM_001348018.2:c.824A>C (ZNF83)	NP_001334947.1:p.His275Pro
NM_001348019.2:c.824A>C (ZNF83)	NP_001334948.1:p.His275Pro
NM_018300.4:c.824A>C (ZNF83) MANE Select	NP_060770.3:p.His275Pro