Canonical Allele Identifier: CA370922594

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999106T>A (hg19) ; chr8:g.31141590T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141590T>A , CM000670.2:g.31141590T>A	GRCh38
NC_000008.10:g.30999106T>A , CM000670.1:g.30999106T>A	GRCh37
NC_000008.9:g.31118648T>A	NCBI36
NG_008870.1:g.113329T>A , LRG_524:g.113329T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3128T>A MANE Select	ENSP00000298139.5:p.Leu1043His
ENST00000650667.1:c.*2742T>A	ENSP00000498593.1:n.*2742T>A
ENST00000298139.5:c.3128T>A	ENSP00000298139.5:p.Leu1043His
ENST00000521620.5:n.1761T>A
NM_000553.4:c.3128T>A , LRG_524t1:c.3128T>A	NP_000544.2:p.Leu1043His
XM_011544639.1:c.3047T>A	XP_011542941.1:p.Leu1016His
XM_011544640.1:c.1529T>A	XP_011542942.1:p.Leu510His
XR_949470.1:n.3401T>A
XR_949471.1:n.3401T>A
XR_949472.1:n.3401T>A
NM_000553.5:c.3128T>A	NP_000544.2:p.Leu1043His
XM_011544639.3:c.3047T>A	XP_011542941.1:p.Leu1016His
XM_024447265.1:c.2918T>A	XP_024303033.1:p.Leu973His
XR_949470.3:n.3429T>A
XR_949471.3:n.3429T>A
XR_949472.3:n.3429T>A
NM_000553.6:c.3128T>A MANE Select	NP_000544.2:p.Leu1043His