Canonical Allele Identifier: CA370911766

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31030571A>T (hg19) ; chr8:g.31173055A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173055A>T , CM000670.2:g.31173055A>T	GRCh38
NC_000008.10:g.31030571A>T , CM000670.1:g.31030571A>T	GRCh37
NC_000008.9:g.31150113A>T	NCBI36
NG_008870.1:g.144794A>T , LRG_524:g.144794A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4252A>T MANE Select	ENSP00000298139.5:p.Ser1418Cys
ENST00000650667.1:c.*3866A>T	ENSP00000498593.1:n.*3866A>T
ENST00000651946.1:n.476A>T
ENST00000298139.5:c.4252A>T	ENSP00000298139.5:p.Ser1418Cys
ENST00000521620.5:n.2885A>T
NM_000553.4:c.4252A>T , LRG_524t1:c.4252A>T	NP_000544.2:p.Ser1418Cys
XM_011544639.1:c.4171A>T	XP_011542941.1:p.Ser1391Cys
XM_011544640.1:c.2653A>T	XP_011542942.1:p.Ser885Cys
XR_949643.1:n.88-1737T>A
XR_949644.1:n.88-1737T>A
XR_949645.1:n.88-1737T>A
XR_949646.1:n.88-1737T>A
XR_949647.1:n.701-1737T>A
XR_949648.1:n.603-1737T>A
NM_000553.5:c.4252A>T	NP_000544.2:p.Ser1418Cys
XM_011544639.3:c.4171A>T	XP_011542941.1:p.Ser1391Cys
XM_024447265.1:c.4042A>T	XP_024303033.1:p.Ser1348Cys
NM_000553.6:c.4252A>T MANE Select	NP_000544.2:p.Ser1418Cys