Canonical Allele Identifier: CA156014

Gene: WRN

Linked Data

• ClinVar Variation Id: 130757
• ClinVar RCV Id: RCV000118875 ; RCV000320404 ; RCV000836843 ; RCV003315690
• dbSNP Id: rs1800391
• ExAC: 8:30938704 G / A
• gnomAD v2: 8-30938704-G-A
• gnomAD v3: 8-31081188-G-A
• gnomAD v4: 8-31081188-G-A
• MyVariant Identifiers: chr8:g.30938704G>A (hg19) ; chr8:g.31081188G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31081188G>A , CM000670.2:g.31081188G>A	GRCh38
NC_000008.10:g.30938704G>A , CM000670.1:g.30938704G>A	GRCh37
NC_000008.9:g.31058246G>A	NCBI36
NG_008870.1:g.52927G>A , LRG_524:g.52927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.1161G>A MANE Select	ENSP00000298139.5:p.Met387Ile
ENST00000650667.1:c.*775G>A	ENSP00000498593.1:n.*775G>A
ENST00000651642.1:c.456G>A	ENSP00000498779.1:p.Met152Ile
ENST00000298139.5:c.1161G>A	ENSP00000298139.5:p.Met387Ile
NM_000553.4:c.1161G>A , LRG_524t1:c.1161G>A	NP_000544.2:p.Met387Ile
XM_011544639.1:c.1161G>A	XP_011542941.1:p.Met387Ile
XR_949470.1:n.1434G>A
XR_949471.1:n.1434G>A
XR_949472.1:n.1434G>A
NM_000553.5:c.1161G>A	NP_000544.2:p.Met387Ile
XM_011544639.3:c.1161G>A	XP_011542941.1:p.Met387Ile
XM_024447265.1:c.951G>A	XP_024303033.1:p.Met317Ile
XR_949470.3:n.1462G>A
XR_949471.3:n.1462G>A
XR_949472.3:n.1462G>A
NM_000553.6:c.1161G>A MANE Select	NP_000544.2:p.Met387Ile