Canonical Allele Identifier: CA4705064

Gene: WRN

Linked Data

• ClinVar Variation Id: 238157
• ClinVar RCV Id: RCV000230150
• dbSNP Id: rs781501590
• ExAC: 8:31004650 G / C
• gnomAD v2: 8-31004650-G-C
• gnomAD v3: 8-31147134-G-C
• gnomAD v4: 8-31147134-G-C
• MyVariant Identifiers: chr8:g.31004650G>C (hg19) ; chr8:g.31147134G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147134G>C , CM000670.2:g.31147134G>C	GRCh38
NC_000008.10:g.31004650G>C , CM000670.1:g.31004650G>C	GRCh37
NC_000008.9:g.31124192G>C	NCBI36
NG_008870.1:g.118873G>C , LRG_524:g.118873G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3459+6G>C MANE Select	ENSP00000298139.5:n.3459+6G>C
ENST00000650667.1:c.*3073+6G>C	ENSP00000498593.1:n.*3073+6G>C
ENST00000298139.5:c.3459+6G>C	ENSP00000298139.5:n.3459+6G>C
ENST00000521620.5:n.2092+6G>C
NM_000553.4:c.3459+6G>C , LRG_524t1:c.3459+6G>C	NP_000544.2:n.3459+6G>C
XM_011544639.1:c.3378+6G>C	XP_011542941.1:n.3378+6G>C
XM_011544640.1:c.1860+6G>C	XP_011542942.1:n.1860+6G>C
XR_949470.1:n.3732+6G>C
XR_949471.1:n.3732+6G>C
XR_949472.1:n.3732+6G>C
XR_949643.1:n.614+1374C>G
NM_000553.5:c.3459+6G>C	NP_000544.2:n.3459+6G>C
XM_011544639.3:c.3378+6G>C	XP_011542941.1:n.3378+6G>C
XM_024447265.1:c.3249+6G>C	XP_024303033.1:n.3249+6G>C
XR_949470.3:n.3760+6G>C
XR_949471.3:n.3760+6G>C
XR_949472.3:n.3760+6G>C
NM_000553.6:c.3459+6G>C MANE Select	NP_000544.2:n.3459+6G>C