Canonical Allele Identifier: CA370911628

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31030540A>T (hg19) ; chr8:g.31173024A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173024A>T , CM000670.2:g.31173024A>T	GRCh38
NC_000008.10:g.31030540A>T , CM000670.1:g.31030540A>T	GRCh37
NC_000008.9:g.31150082A>T	NCBI36
NG_008870.1:g.144763A>T , LRG_524:g.144763A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4221A>T MANE Select	ENSP00000298139.5:p.Leu1407Phe
ENST00000650667.1:c.*3835A>T	ENSP00000498593.1:n.*3835A>T
ENST00000651946.1:n.445A>T
ENST00000298139.5:c.4221A>T	ENSP00000298139.5:p.Leu1407Phe
ENST00000521620.5:n.2854A>T
NM_000553.4:c.4221A>T , LRG_524t1:c.4221A>T	NP_000544.2:p.Leu1407Phe
XM_011544639.1:c.4140A>T	XP_011542941.1:p.Leu1380Phe
XM_011544640.1:c.2622A>T	XP_011542942.1:p.Leu874Phe
XR_949643.1:n.88-1706T>A
XR_949644.1:n.88-1706T>A
XR_949645.1:n.88-1706T>A
XR_949646.1:n.88-1706T>A
XR_949647.1:n.701-1706T>A
XR_949648.1:n.603-1706T>A
NM_000553.5:c.4221A>T	NP_000544.2:p.Leu1407Phe
XM_011544639.3:c.4140A>T	XP_011542941.1:p.Leu1380Phe
XM_024447265.1:c.4011A>T	XP_024303033.1:p.Leu1337Phe
NM_000553.6:c.4221A>T MANE Select	NP_000544.2:p.Leu1407Phe