Canonical Allele Identifier: CA370911619

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31030538T>A (hg19) ; chr8:g.31173022T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173022T>A , CM000670.2:g.31173022T>A	GRCh38
NC_000008.10:g.31030538T>A , CM000670.1:g.31030538T>A	GRCh37
NC_000008.9:g.31150080T>A	NCBI36
NG_008870.1:g.144761T>A , LRG_524:g.144761T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4219T>A MANE Select	ENSP00000298139.5:p.Leu1407Ile
ENST00000650667.1:c.*3833T>A	ENSP00000498593.1:n.*3833T>A
ENST00000651946.1:n.443T>A
ENST00000298139.5:c.4219T>A	ENSP00000298139.5:p.Leu1407Ile
ENST00000521620.5:n.2852T>A
NM_000553.4:c.4219T>A , LRG_524t1:c.4219T>A	NP_000544.2:p.Leu1407Ile
XM_011544639.1:c.4138T>A	XP_011542941.1:p.Leu1380Ile
XM_011544640.1:c.2620T>A	XP_011542942.1:p.Leu874Ile
XR_949643.1:n.88-1704A>T
XR_949644.1:n.88-1704A>T
XR_949645.1:n.88-1704A>T
XR_949646.1:n.88-1704A>T
XR_949647.1:n.701-1704A>T
XR_949648.1:n.603-1704A>T
NM_000553.5:c.4219T>A	NP_000544.2:p.Leu1407Ile
XM_011544639.3:c.4138T>A	XP_011542941.1:p.Leu1380Ile
XM_024447265.1:c.4009T>A	XP_024303033.1:p.Leu1337Ile
NM_000553.6:c.4219T>A MANE Select	NP_000544.2:p.Leu1407Ile