Canonical Allele Identifier: CA1296239

Gene: PRG4

Linked Data

• ClinVar Variation Id: 518310
• ClinVar RCV Id: RCV000605341 ; RCV001727775
• dbSNP Id: rs778925933
• ExAC: 1:186276588 T / C
• gnomAD v2: 1-186276588-T-C
• gnomAD v3: 1-186307456-T-C
• gnomAD v4: 1-186307456-T-C
• MyVariant Identifiers: chr1:g.186276588T>C (hg19) ; chr1:g.186307456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186307456T>C , CM000663.2:g.186307456T>C	GRCh38
NC_000001.10:g.186276588T>C , CM000663.1:g.186276588T>C	GRCh37
NC_000001.9:g.184543211T>C	NCBI36
NG_008248.2:g.16171T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445192.7:c.1737T>C MANE Select	ENSP00000399679.3:p.Thr579=
ENST00000367482.8:c.1335T>C	ENSP00000356452.4:p.Thr445=
ENST00000367483.8:c.1614T>C	ENSP00000356453.4:p.Thr538=
ENST00000367485.4:c.1458T>C	ENSP00000356455.4:p.Thr486=
ENST00000445192.6:c.1737T>C	ENSP00000399679.2:p.Thr579=
ENST00000635041.1:c.1608T>C	ENSP00000489292.1:p.Thr536=
NM_001127708.2:c.1614T>C	NP_001121180.2:p.Thr538=
NM_001127709.2:c.1458T>C	NP_001121181.2:p.Thr486=
NM_001127710.2:c.1335T>C	NP_001121182.2:p.Thr445=
NM_001303232.1:c.1608T>C	NP_001290161.1:p.Thr536=
NM_005807.4:c.1737T>C	NP_005798.3:p.Thr579=
XM_024448707.1:c.1737T>C	XP_024304475.1:p.Thr579=
XM_024448717.1:c.1614T>C	XP_024304485.1:p.Thr538=
NM_001127708.3:c.1614T>C	NP_001121180.2:p.Thr538=
NM_001127709.3:c.1458T>C	NP_001121181.2:p.Thr486=
NM_001127710.3:c.1335T>C	NP_001121182.2:p.Thr445=
NM_001303232.2:c.1608T>C	NP_001290161.1:p.Thr536=
NM_005807.6:c.1737T>C MANE Select	NP_005798.3:p.Thr579=