Canonical Allele Identifier: CA2716719318

Gene: WRN

Linked Data

• ClinVar Variation Id: 2910336
• ClinVar RCV Id: RCV003615394
• dbSNP Id: rs1802648854

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141786C>T , CM000670.2:g.31141786C>T	GRCh38
NC_000008.10:g.30999302C>T , CM000670.1:g.30999302C>T	GRCh37
NC_000008.9:g.31118844C>T	NCBI36
NG_008870.1:g.113525C>T , LRG_524:g.113525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3233+11C>T MANE Select	ENSP00000298139.5:n.3233+11C>T
ENST00000650667.1:c.*2847+11C>T	ENSP00000498593.1:n.*2847+11C>T
ENST00000298139.5:c.3233+11C>T	ENSP00000298139.5:n.3233+11C>T
ENST00000521620.5:n.1866+11C>T
NM_000553.4:c.3233+11C>T , LRG_524t1:c.3233+11C>T	NP_000544.2:n.3233+11C>T
XM_011544639.1:c.3152+11C>T	XP_011542941.1:n.3152+11C>T
XM_011544640.1:c.1634+11C>T	XP_011542942.1:n.1634+11C>T
XR_949470.1:n.3506+11C>T
XR_949471.1:n.3506+11C>T
XR_949472.1:n.3506+11C>T
NM_000553.5:c.3233+11C>T	NP_000544.2:n.3233+11C>T
XM_011544639.3:c.3152+11C>T	XP_011542941.1:n.3152+11C>T
XM_024447265.1:c.3023+11C>T	XP_024303033.1:n.3023+11C>T
XR_949470.3:n.3534+11C>T
XR_949471.3:n.3534+11C>T
XR_949472.3:n.3534+11C>T
NM_000553.6:c.3233+11C>T MANE Select	NP_000544.2:n.3233+11C>T