Canonical Allele Identifier: CA174904608

Gene: WRN

Linked Data

• dbSNP Id: rs11574358
• MyVariant Identifiers: chr8:g.31004582T>G (hg19) ; chr8:g.31147066T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147066T>G , CM000670.2:g.31147066T>G	GRCh38
NC_000008.10:g.31004582T>G , CM000670.1:g.31004582T>G	GRCh37
NC_000008.9:g.31124124T>G	NCBI36
NG_008870.1:g.118805T>G , LRG_524:g.118805T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3397T>G MANE Select	ENSP00000298139.5:p.Ser1133Ala
ENST00000650667.1:c.*3011T>G	ENSP00000498593.1:n.*3011T>G
ENST00000298139.5:c.3397T>G	ENSP00000298139.5:p.Ser1133Ala
ENST00000521620.5:n.2030T>G
NM_000553.4:c.3397T>G , LRG_524t1:c.3397T>G	NP_000544.2:p.Ser1133Ala
XM_011544639.1:c.3316T>G	XP_011542941.1:p.Ser1106Ala
XM_011544640.1:c.1798T>G	XP_011542942.1:p.Ser600Ala
XR_949470.1:n.3670T>G
XR_949471.1:n.3670T>G
XR_949472.1:n.3670T>G
XR_949643.1:n.614+1442A>C
NM_000553.5:c.3397T>G	NP_000544.2:p.Ser1133Ala
XM_011544639.3:c.3316T>G	XP_011542941.1:p.Ser1106Ala
XM_024447265.1:c.3187T>G	XP_024303033.1:p.Ser1063Ala
XR_949470.3:n.3698T>G
XR_949471.3:n.3698T>G
XR_949472.3:n.3698T>G
NM_000553.6:c.3397T>G MANE Select	NP_000544.2:p.Ser1133Ala