Canonical Allele Identifier: CA1295879

Gene: PRG4

Linked Data

• ClinVar Variation Id: 518309
• ClinVar RCV Id: RCV000600413 ; RCV001724088
• dbSNP Id: rs2273779
• ExAC: 1:186273994 C / T
• gnomAD v2: 1-186273994-C-T
• gnomAD v3: 1-186304862-C-T
• gnomAD v4: 1-186304862-C-T
• MyVariant Identifiers: chr1:g.186273994C>T (hg19) ; chr1:g.186304862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186304862C>T , CM000663.2:g.186304862C>T	GRCh38
NC_000001.10:g.186273994C>T , CM000663.1:g.186273994C>T	GRCh37
NC_000001.9:g.184540617C>T	NCBI36
NG_008248.2:g.13577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445192.7:c.538C>T MANE Select	ENSP00000399679.3:p.Arg180Trp
ENST00000367482.8:c.197-1456C>T	ENSP00000356452.4:n.197-1456C>T
ENST00000367483.8:c.415C>T	ENSP00000356453.4:p.Arg139Trp
ENST00000367485.4:c.320-1456C>T	ENSP00000356455.4:n.320-1456C>T
ENST00000445192.6:c.538C>T	ENSP00000399679.2:p.Arg180Trp
ENST00000533951.5:c.265C>T	ENSP00000431330.1:p.Arg89Trp
ENST00000635041.1:c.469+605C>T	ENSP00000489292.1:n.469+605C>T
NM_001127708.2:c.415C>T	NP_001121180.2:p.Arg139Trp
NM_001127709.2:c.320-1456C>T	NP_001121181.2:n.320-1456C>T
NM_001127710.2:c.197-1456C>T	NP_001121182.2:n.197-1456C>T
NM_001303232.1:c.469+605C>T	NP_001290161.1:n.469+605C>T
NM_005807.4:c.538C>T	NP_005798.3:p.Arg180Trp
XM_024448707.1:c.538C>T	XP_024304475.1:p.Arg180Trp
XM_024448717.1:c.415C>T	XP_024304485.1:p.Arg139Trp
NM_001127708.3:c.415C>T	NP_001121180.2:p.Arg139Trp
NM_001127709.3:c.320-1456C>T	NP_001121181.2:n.320-1456C>T
NM_001127710.3:c.197-1456C>T	NP_001121182.2:n.197-1456C>T
NM_001303232.2:c.469+605C>T	NP_001290161.1:n.469+605C>T
NM_005807.6:c.538C>T MANE Select	NP_005798.3:p.Arg180Trp