Canonical Allele Identifier: CA370911726

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31030563G>T (hg19) ; chr8:g.31173047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173047G>T , CM000670.2:g.31173047G>T	GRCh38
NC_000008.10:g.31030563G>T , CM000670.1:g.31030563G>T	GRCh37
NC_000008.9:g.31150105G>T	NCBI36
NG_008870.1:g.144786G>T , LRG_524:g.144786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4244G>T MANE Select	ENSP00000298139.5:p.Ser1415Ile
ENST00000650667.1:c.*3858G>T	ENSP00000498593.1:n.*3858G>T
ENST00000651946.1:n.468G>T
ENST00000298139.5:c.4244G>T	ENSP00000298139.5:p.Ser1415Ile
ENST00000521620.5:n.2877G>T
NM_000553.4:c.4244G>T , LRG_524t1:c.4244G>T	NP_000544.2:p.Ser1415Ile
XM_011544639.1:c.4163G>T	XP_011542941.1:p.Ser1388Ile
XM_011544640.1:c.2645G>T	XP_011542942.1:p.Ser882Ile
XR_949643.1:n.88-1729C>A
XR_949644.1:n.88-1729C>A
XR_949645.1:n.88-1729C>A
XR_949646.1:n.88-1729C>A
XR_949647.1:n.701-1729C>A
XR_949648.1:n.603-1729C>A
NM_000553.5:c.4244G>T	NP_000544.2:p.Ser1415Ile
XM_011544639.3:c.4163G>T	XP_011542941.1:p.Ser1388Ile
XM_024447265.1:c.4034G>T	XP_024303033.1:p.Ser1345Ile
NM_000553.6:c.4244G>T MANE Select	NP_000544.2:p.Ser1415Ile