Canonical Allele Identifier: CA370911750

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31030568A>T (hg19) ; chr8:g.31173052A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173052A>T , CM000670.2:g.31173052A>T	GRCh38
NC_000008.10:g.31030568A>T , CM000670.1:g.31030568A>T	GRCh37
NC_000008.9:g.31150110A>T	NCBI36
NG_008870.1:g.144791A>T , LRG_524:g.144791A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4249A>T MANE Select	ENSP00000298139.5:p.Thr1417Ser
ENST00000650667.1:c.*3863A>T	ENSP00000498593.1:n.*3863A>T
ENST00000651946.1:n.473A>T
ENST00000298139.5:c.4249A>T	ENSP00000298139.5:p.Thr1417Ser
ENST00000521620.5:n.2882A>T
NM_000553.4:c.4249A>T , LRG_524t1:c.4249A>T	NP_000544.2:p.Thr1417Ser
XM_011544639.1:c.4168A>T	XP_011542941.1:p.Thr1390Ser
XM_011544640.1:c.2650A>T	XP_011542942.1:p.Thr884Ser
XR_949643.1:n.88-1734T>A
XR_949644.1:n.88-1734T>A
XR_949645.1:n.88-1734T>A
XR_949646.1:n.88-1734T>A
XR_949647.1:n.701-1734T>A
XR_949648.1:n.603-1734T>A
NM_000553.5:c.4249A>T	NP_000544.2:p.Thr1417Ser
XM_011544639.3:c.4168A>T	XP_011542941.1:p.Thr1390Ser
XM_024447265.1:c.4039A>T	XP_024303033.1:p.Thr1347Ser
NM_000553.6:c.4249A>T MANE Select	NP_000544.2:p.Thr1417Ser