Canonical Allele Identifier: CA370911637

Gene: WRN

Linked Data

• gnomAD v4: 8-31173026-C-A
• COSMIC: COSM6445070
• MyVariant Identifiers: chr8:g.31030542C>A (hg19) ; chr8:g.31173026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173026C>A , CM000670.2:g.31173026C>A	GRCh38
NC_000008.10:g.31030542C>A , CM000670.1:g.31030542C>A	GRCh37
NC_000008.9:g.31150084C>A	NCBI36
NG_008870.1:g.144765C>A , LRG_524:g.144765C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4223C>A MANE Select	ENSP00000298139.5:p.Pro1408His
ENST00000650667.1:c.*3837C>A	ENSP00000498593.1:n.*3837C>A
ENST00000651946.1:n.447C>A
ENST00000298139.5:c.4223C>A	ENSP00000298139.5:p.Pro1408His
ENST00000521620.5:n.2856C>A
NM_000553.4:c.4223C>A , LRG_524t1:c.4223C>A	NP_000544.2:p.Pro1408His
XM_011544639.1:c.4142C>A	XP_011542941.1:p.Pro1381His
XM_011544640.1:c.2624C>A	XP_011542942.1:p.Pro875His
XR_949643.1:n.88-1708G>T
XR_949644.1:n.88-1708G>T
XR_949645.1:n.88-1708G>T
XR_949646.1:n.88-1708G>T
XR_949647.1:n.701-1708G>T
XR_949648.1:n.603-1708G>T
NM_000553.5:c.4223C>A	NP_000544.2:p.Pro1408His
XM_011544639.3:c.4142C>A	XP_011542941.1:p.Pro1381His
XM_024447265.1:c.4013C>A	XP_024303033.1:p.Pro1338His
NM_000553.6:c.4223C>A MANE Select	NP_000544.2:p.Pro1408His