Canonical Allele Identifier: CA4704948

Gene: WRN

Linked Data

• ClinVar Variation Id: 2813222
• ClinVar RCV Id: RCV003613645
• dbSNP Id: rs1554532747
• ExAC: 8:30999180 C / A
• gnomAD v2: 8-30999180-C-A
• gnomAD v3: 8-31141664-C-A
• gnomAD v4: 8-31141664-C-A
• MyVariant Identifiers: chr8:g.30999180C>A (hg19) ; chr8:g.30999180_30999181delinsAT (hg19) ; chr8:g.31141664_31141665delinsAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141664C>A , CM000670.2:g.31141664C>A	GRCh38
NC_000008.10:g.30999180C>A , CM000670.1:g.30999180C>A	GRCh37
NC_000008.9:g.31118722C>A	NCBI36
NG_008870.1:g.113403C>A , LRG_524:g.113403C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3139-17C>A MANE Select	ENSP00000298139.5:n.3139-17C>A
ENST00000650667.1:c.*2753-17C>A	ENSP00000498593.1:n.*2753-17C>A
ENST00000298139.5:c.3139-17C>A	ENSP00000298139.5:n.3139-17C>A
ENST00000521620.5:n.1772-17C>A
NM_000553.4:c.3139-17C>A , LRG_524t1:c.3139-17C>A	NP_000544.2:n.3139-17C>A
XM_011544639.1:c.3058-17C>A	XP_011542941.1:n.3058-17C>A
XM_011544640.1:c.1540-17C>A	XP_011542942.1:n.1540-17C>A
XR_949470.1:n.3412-17C>A
XR_949471.1:n.3412-17C>A
XR_949472.1:n.3412-17C>A
NM_000553.5:c.3139-17C>A	NP_000544.2:n.3139-17C>A
XM_011544639.3:c.3058-17C>A	XP_011542941.1:n.3058-17C>A
XM_024447265.1:c.2929-17C>A	XP_024303033.1:n.2929-17C>A
XR_949470.3:n.3440-17C>A
XR_949471.3:n.3440-17C>A
XR_949472.3:n.3440-17C>A
NM_000553.6:c.3139-17C>A MANE Select	NP_000544.2:n.3139-17C>A