Canonical Allele Identifier: CA4704263

Gene: WRN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31081208C>T , CM000670.2:g.31081208C>T	GRCh38
NC_000008.10:g.30938724C>T , CM000670.1:g.30938724C>T	GRCh37
NC_000008.9:g.31058266C>T	NCBI36
NG_008870.1:g.52947C>T , LRG_524:g.52947C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000553.6:c.1181C>T MANE Select	NP_000544.2:p.Ser394Leu
ENST00000298139.7:c.1181C>T MANE Select	ENSP00000298139.5:p.Ser394Leu
NM_000553.4:c.1181C>T , LRG_524t1:c.1181C>T	NP_000544.2:p.Ser394Leu
NM_000553.5:c.1181C>T	NP_000544.2:p.Ser394Leu
ENST00000298139.5:c.1181C>T	ENSP00000298139.5:p.Ser394Leu
ENST00000650667.1:c.*795C>T	ENSP00000498593.1:n.*795C>T
ENST00000651642.1:c.476C>T	ENSP00000498779.1:p.Ser159Leu
XM_011544639.1:c.1181C>T	XP_011542941.1:p.Ser394Leu
XM_011544639.3:c.1181C>T	XP_011542941.1:p.Ser394Leu
XM_024447265.1:c.971C>T	XP_024303033.1:p.Ser324Leu
XR_949470.1:n.1454C>T
XR_949470.3:n.1482C>T
XR_949471.1:n.1454C>T
XR_949471.3:n.1482C>T
XR_949472.1:n.1454C>T
XR_949472.3:n.1482C>T