Canonical Allele Identifier: CA4704991

Gene: WRN

Linked Data

• ClinVar Variation Id: 238149
• ClinVar RCV Id: RCV000228151 ; RCV003316248
• dbSNP Id: rs11574345
• ExAC: 8:31000145 G / A
• gnomAD v2: 8-31000145-G-A
• gnomAD v3: 8-31142629-G-A
• gnomAD v4: 8-31142629-G-A
• COSMIC: COSM1099232
• MyVariant Identifiers: chr8:g.31000145G>A (hg19) ; chr8:g.31000145_31000146delinsAA (hg19) ; chr8:g.31142629G>A (hg38) ; chr8:g.31142629_31142630delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31142629G>A , CM000670.2:g.31142629G>A	GRCh38
NC_000008.10:g.31000145G>A , CM000670.1:g.31000145G>A	GRCh37
NC_000008.9:g.31119687G>A	NCBI36
NG_008870.1:g.114368G>A , LRG_524:g.114368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3237G>A MANE Select	ENSP00000298139.5:p.Ser1079=
ENST00000650667.1:c.*2851G>A	ENSP00000498593.1:n.*2851G>A
ENST00000298139.5:c.3237G>A	ENSP00000298139.5:p.Ser1079=
ENST00000521620.5:n.1870G>A
NM_000553.4:c.3237G>A , LRG_524t1:c.3237G>A	NP_000544.2:p.Ser1079=
XM_011544639.1:c.3156G>A	XP_011542941.1:p.Ser1052=
XM_011544640.1:c.1638G>A	XP_011542942.1:p.Ser546=
XR_949470.1:n.3510G>A
XR_949471.1:n.3510G>A
XR_949472.1:n.3510G>A
NM_000553.5:c.3237G>A	NP_000544.2:p.Ser1079=
XM_011544639.3:c.3156G>A	XP_011542941.1:p.Ser1052=
XM_024447265.1:c.3027G>A	XP_024303033.1:p.Ser1009=
XR_949470.3:n.3538G>A
XR_949471.3:n.3538G>A
XR_949472.3:n.3538G>A
NM_000553.6:c.3237G>A MANE Select	NP_000544.2:p.Ser1079=