Canonical Allele Identifier: CA370928843

Gene: WRN

Linked Data

• ClinVar Variation Id: 2772204
• ClinVar RCV Id: RCV003505722
• MyVariant Identifiers: chr8:g.31012146C>G (hg19) ; chr8:g.31154630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31154630C>G , CM000670.2:g.31154630C>G	GRCh38
NC_000008.10:g.31012146C>G , CM000670.1:g.31012146C>G	GRCh37
NC_000008.9:g.31131688C>G	NCBI36
NG_008870.1:g.126369C>G , LRG_524:g.126369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3694C>G MANE Select	ENSP00000298139.5:p.Leu1232Val
ENST00000650667.1:c.*3308C>G	ENSP00000498593.1:n.*3308C>G
ENST00000298139.5:c.3694C>G	ENSP00000298139.5:p.Leu1232Val
ENST00000521620.5:n.2327C>G
NM_000553.4:c.3694C>G , LRG_524t1:c.3694C>G	NP_000544.2:p.Leu1232Val
XM_011544639.1:c.3613C>G	XP_011542941.1:p.Leu1205Val
XM_011544640.1:c.2095C>G	XP_011542942.1:p.Leu699Val
XR_949470.1:n.3967C>G
XR_949471.1:n.3967C>G
XR_949472.1:n.3967C>G
XR_949643.1:n.457-5965G>C
XR_949644.1:n.381-5965G>C
XR_949647.1:n.1070-5965G>C
XR_949648.1:n.972-5965G>C
NM_000553.5:c.3694C>G	NP_000544.2:p.Leu1232Val
XM_011544639.3:c.3613C>G	XP_011542941.1:p.Leu1205Val
XM_024447265.1:c.3484C>G	XP_024303033.1:p.Leu1162Val
XR_949470.3:n.3995C>G
XR_949471.3:n.3995C>G
XR_949472.3:n.3995C>G
NM_000553.6:c.3694C>G MANE Select	NP_000544.2:p.Leu1232Val