Canonical Allele Identifier: CA460221672

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30924629C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067113C>A , CM000670.2:g.31067113C>A	GRCh38
NC_000008.10:g.30924629C>A , CM000670.1:g.30924629C>A	GRCh37
NC_000008.9:g.31044171C>A	NCBI36
NG_008870.1:g.38852C>A , LRG_524:g.38852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.585C>A MANE Select	ENSP00000298139.5:p.Ile195=
ENST00000650667.1:c.*199C>A	ENSP00000498593.1:n.*199C>A
ENST00000298139.5:c.585C>A	ENSP00000298139.5:p.Ile195=
NM_000553.4:c.585C>A , LRG_524t1:c.585C>A	NP_000544.2:p.Ile195=
XM_011544639.1:c.585C>A	XP_011542941.1:p.Ile195=
XR_949470.1:n.858C>A
XR_949471.1:n.858C>A
XR_949472.1:n.858C>A
NM_000553.5:c.585C>A	NP_000544.2:p.Ile195=
XM_011544639.3:c.585C>A	XP_011542941.1:p.Ile195=
XM_024447265.1:c.375C>A	XP_024303033.1:p.Ile125=
XR_949470.3:n.886C>A
XR_949471.3:n.886C>A
XR_949472.3:n.886C>A
NM_000553.6:c.585C>A MANE Select	NP_000544.2:p.Ile195=