Canonical Allele Identifier: CA370916420

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30924691A>T (hg19) ; chr8:g.31067175A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067175A>T , CM000670.2:g.31067175A>T	GRCh38
NC_000008.10:g.30924691A>T , CM000670.1:g.30924691A>T	GRCh37
NC_000008.9:g.31044233A>T	NCBI36
NG_008870.1:g.38914A>T , LRG_524:g.38914A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.647A>T MANE Select	ENSP00000298139.5:p.Asp216Val
ENST00000650667.1:c.*261A>T	ENSP00000498593.1:n.*261A>T
ENST00000298139.5:c.647A>T	ENSP00000298139.5:p.Asp216Val
NM_000553.4:c.647A>T , LRG_524t1:c.647A>T	NP_000544.2:p.Asp216Val
XM_011544639.1:c.647A>T	XP_011542941.1:p.Asp216Val
XR_949470.1:n.920A>T
XR_949471.1:n.920A>T
XR_949472.1:n.920A>T
NM_000553.5:c.647A>T	NP_000544.2:p.Asp216Val
XM_011544639.3:c.647A>T	XP_011542941.1:p.Asp216Val
XM_024447265.1:c.437A>T	XP_024303033.1:p.Asp146Val
XR_949470.3:n.948A>T
XR_949471.3:n.948A>T
XR_949472.3:n.948A>T
NM_000553.6:c.647A>T MANE Select	NP_000544.2:p.Asp216Val