Canonical Allele Identifier: CA370922593

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999105C>T (hg19) ; chr8:g.31141589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141589C>T , CM000670.2:g.31141589C>T	GRCh38
NC_000008.10:g.30999105C>T , CM000670.1:g.30999105C>T	GRCh37
NC_000008.9:g.31118647C>T	NCBI36
NG_008870.1:g.113328C>T , LRG_524:g.113328C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3127C>T MANE Select	ENSP00000298139.5:p.Leu1043Phe
ENST00000650667.1:c.*2741C>T	ENSP00000498593.1:n.*2741C>T
ENST00000298139.5:c.3127C>T	ENSP00000298139.5:p.Leu1043Phe
ENST00000521620.5:n.1760C>T
NM_000553.4:c.3127C>T , LRG_524t1:c.3127C>T	NP_000544.2:p.Leu1043Phe
XM_011544639.1:c.3046C>T	XP_011542941.1:p.Leu1016Phe
XM_011544640.1:c.1528C>T	XP_011542942.1:p.Leu510Phe
XR_949470.1:n.3400C>T
XR_949471.1:n.3400C>T
XR_949472.1:n.3400C>T
NM_000553.5:c.3127C>T	NP_000544.2:p.Leu1043Phe
XM_011544639.3:c.3046C>T	XP_011542941.1:p.Leu1016Phe
XM_024447265.1:c.2917C>T	XP_024303033.1:p.Leu973Phe
XR_949470.3:n.3428C>T
XR_949471.3:n.3428C>T
XR_949472.3:n.3428C>T
NM_000553.6:c.3127C>T MANE Select	NP_000544.2:p.Leu1043Phe