Canonical Allele Identifier: CA370911944

Gene: WRN

Linked Data

• ClinVar Variation Id: 1720388
• ClinVar RCV Id: RCV002298141
• gnomAD v4: 8-31173096-T-G
• MyVariant Identifiers: chr8:g.31030612T>G (hg19) ; chr8:g.31173096T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173096T>G , CM000670.2:g.31173096T>G	GRCh38
NC_000008.10:g.31030612T>G , CM000670.1:g.31030612T>G	GRCh37
NC_000008.9:g.31150154T>G	NCBI36
NG_008870.1:g.144835T>G , LRG_524:g.144835T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4293T>G MANE Select	ENSP00000298139.5:p.Phe1431Leu
ENST00000650667.1:c.*3907T>G	ENSP00000498593.1:n.*3907T>G
ENST00000651946.1:n.517T>G
ENST00000298139.5:c.4293T>G	ENSP00000298139.5:p.Phe1431Leu
ENST00000521620.5:n.2926T>G
NM_000553.4:c.4293T>G , LRG_524t1:c.4293T>G	NP_000544.2:p.Phe1431Leu
XM_011544639.1:c.4212T>G	XP_011542941.1:p.Phe1404Leu
XM_011544640.1:c.2694T>G	XP_011542942.1:p.Phe898Leu
XR_949643.1:n.88-1778A>C
XR_949644.1:n.88-1778A>C
XR_949645.1:n.88-1778A>C
XR_949646.1:n.88-1778A>C
XR_949647.1:n.701-1778A>C
XR_949648.1:n.603-1778A>C
NM_000553.5:c.4293T>G	NP_000544.2:p.Phe1431Leu
XM_011544639.3:c.4212T>G	XP_011542941.1:p.Phe1404Leu
XM_024447265.1:c.4083T>G	XP_024303033.1:p.Phe1361Leu
NM_000553.6:c.4293T>G MANE Select	NP_000544.2:p.Phe1431Leu