Canonical Allele Identifier: CA7708558

Gene: ZNF592

Linked Data

• dbSNP Id: rs765944362
• ExAC: 15:85342356 T / C
• gnomAD v2: 15-85342356-T-C
• gnomAD v4: 15-84799125-T-C
• MyVariant Identifiers: chr15:g.85342356T>C (hg19) ; chr15:g.84799125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84799125T>C , CM000677.2:g.84799125T>C	GRCh38
NC_000015.9:g.85342356T>C , CM000677.1:g.85342356T>C	GRCh37
NC_000015.8:g.83143360T>C	NCBI36
NG_028094.1:g.55539T>C
NG_028094.2:g.55539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560079.7:c.3052T>C MANE Select	ENSP00000452877.2:p.Cys1018Arg
ENST00000299927.4:c.3052T>C	ENSP00000299927.3:p.Cys1018Arg
ENST00000559607.1:c.*464T>C	ENSP00000453491.1:n.*464T>C
ENST00000560079.6:c.3052T>C	ENSP00000452877.2:p.Cys1018Arg
NM_014630.2:c.3052T>C	NP_055445.2:p.Cys1018Arg
XM_005254996.2:c.3052T>C	XP_005255053.1:p.Cys1018Arg
XM_011522246.1:c.3052T>C	XP_011520548.1:p.Cys1018Arg
XM_011522247.1:c.3052T>C	XP_011520549.1:p.Cys1018Arg
XM_011522248.1:c.3052T>C	XP_011520550.1:p.Cys1018Arg
XR_931951.1:n.3440T>C
XM_005254996.3:c.3052T>C	XP_005255053.1:p.Cys1018Arg
XM_011522246.2:c.3052T>C	XP_011520548.1:p.Cys1018Arg
XM_011522247.2:c.3052T>C	XP_011520549.1:p.Cys1018Arg
XM_011522248.2:c.3052T>C	XP_011520550.1:p.Cys1018Arg
XM_017022734.1:c.3052T>C	XP_016878223.1:p.Cys1018Arg
XR_931951.2:n.3445T>C
NM_014630.3:c.3052T>C MANE Select	NP_055445.2:p.Cys1018Arg