Canonical Allele Identifier: CA460225124

Gene: WRN

Linked Data

• ClinVar Variation Id: 2061855
• ClinVar RCV Id: RCV002952994
• dbSNP Id: rs1474231394
• gnomAD v2: 8-31012145-C-T
• gnomAD v4: 8-31154629-C-T
• MyVariant Identifiers: chr8:g.31012145C>T (hg19) ; chr8:g.31154629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31154629C>T , CM000670.2:g.31154629C>T	GRCh38
NC_000008.10:g.31012145C>T , CM000670.1:g.31012145C>T	GRCh37
NC_000008.9:g.31131687C>T	NCBI36
NG_008870.1:g.126368C>T , LRG_524:g.126368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3693C>T MANE Select	ENSP00000298139.5:p.Asp1231=
ENST00000650667.1:c.*3307C>T	ENSP00000498593.1:n.*3307C>T
ENST00000298139.5:c.3693C>T	ENSP00000298139.5:p.Asp1231=
ENST00000521620.5:n.2326C>T
NM_000553.4:c.3693C>T , LRG_524t1:c.3693C>T	NP_000544.2:p.Asp1231=
XM_011544639.1:c.3612C>T	XP_011542941.1:p.Asp1204=
XM_011544640.1:c.2094C>T	XP_011542942.1:p.Asp698=
XR_949470.1:n.3966C>T
XR_949471.1:n.3966C>T
XR_949472.1:n.3966C>T
XR_949643.1:n.457-5964G>A
XR_949644.1:n.381-5964G>A
XR_949647.1:n.1070-5964G>A
XR_949648.1:n.972-5964G>A
NM_000553.5:c.3693C>T	NP_000544.2:p.Asp1231=
XM_011544639.3:c.3612C>T	XP_011542941.1:p.Asp1204=
XM_024447265.1:c.3483C>T	XP_024303033.1:p.Asp1161=
XR_949470.3:n.3994C>T
XR_949471.3:n.3994C>T
XR_949472.3:n.3994C>T
NM_000553.6:c.3693C>T MANE Select	NP_000544.2:p.Asp1231=