Canonical Allele Identifier: CA174889589

Gene: WRN

Linked Data

• dbSNP Id: rs375879048
• gnomAD v2: 8-31030652-T-A
• gnomAD v3: 8-31173136-T-A
• gnomAD v4: 8-31173136-T-A
• MyVariant Identifiers: chr8:g.31030652T>A (hg19) ; chr8:g.31173136T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173136T>A , CM000670.2:g.31173136T>A	GRCh38
NC_000008.10:g.31030652T>A , CM000670.1:g.31030652T>A	GRCh37
NC_000008.9:g.31150194T>A	NCBI36
NG_008870.1:g.144875T>A , LRG_524:g.144875T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.*34T>A MANE Select	ENSP00000298139.5:n.*34T>A
ENST00000650667.1:c.*3947T>A	ENSP00000498593.1:n.*3947T>A
ENST00000651946.1:n.557T>A
ENST00000298139.5:c.*34T>A	ENSP00000298139.5:n.*34T>A
ENST00000521620.5:n.2966T>A
NM_000553.4:c.*34T>A , LRG_524t1:c.*34T>A	NP_000544.2:n.*34T>A
XM_011544639.1:c.*34T>A	XP_011542941.1:n.*34T>A
XM_011544640.1:c.*34T>A	XP_011542942.1:n.*34T>A
XR_949643.1:n.88-1818A>T
XR_949644.1:n.88-1818A>T
XR_949645.1:n.88-1818A>T
XR_949646.1:n.88-1818A>T
XR_949647.1:n.701-1818A>T
XR_949648.1:n.603-1818A>T
NM_000553.5:c.*34T>A	NP_000544.2:n.*34T>A
XM_011544639.3:c.*34T>A	XP_011542941.1:n.*34T>A
XM_024447265.1:c.*34T>A	XP_024303033.1:n.*34T>A
NM_000553.6:c.*34T>A MANE Select	NP_000544.2:n.*34T>A