Canonical Allele Identifier: CA4703957

Gene: WRN

Linked Data

• ClinVar Variation Id: 528099
• ClinVar RCV Id: RCV000633182
• dbSNP Id: rs202148988
• ExAC: 8:30915979 T / A
• gnomAD v2: 8-30915979-T-A
• gnomAD v3: 8-31058463-T-A
• gnomAD v4: 8-31058463-T-A
• MyVariant Identifiers: chr8:g.30915979T>A (hg19) ; chr8:g.31058463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31058463T>A , CM000670.2:g.31058463T>A	GRCh38
NC_000008.10:g.30915979T>A , CM000670.1:g.30915979T>A	GRCh37
NC_000008.9:g.31035521T>A	NCBI36
NG_008870.1:g.30202T>A , LRG_524:g.30202T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.16T>A MANE Select	ENSP00000298139.5:p.Leu6Met
ENST00000650667.1:c.16T>A	ENSP00000498593.1:p.Leu6Met
ENST00000298139.5:c.16T>A	ENSP00000298139.5:p.Leu6Met
NM_000553.4:c.16T>A , LRG_524t1:c.16T>A	NP_000544.2:p.Leu6Met
XM_011544639.1:c.16T>A	XP_011542941.1:p.Leu6Met
XR_949470.1:n.289T>A
XR_949471.1:n.289T>A
XR_949472.1:n.289T>A
NM_000553.5:c.16T>A	NP_000544.2:p.Leu6Met
XM_011544639.3:c.16T>A	XP_011542941.1:p.Leu6Met
XM_024447265.1:c.-319T>A	XP_024303033.1:n.-319T>A
XR_949470.3:n.317T>A
XR_949471.3:n.317T>A
XR_949472.3:n.317T>A
NM_000553.6:c.16T>A MANE Select	NP_000544.2:p.Leu6Met