Canonical Allele Identifier: CA4705307

Gene: WRN

Linked Data

• dbSNP Id: rs762597300
• ExAC: 8:31030572 G / A
• gnomAD v2: 8-31030572-G-A
• gnomAD v4: 8-31173056-G-A
• MyVariant Identifiers: chr8:g.31030572G>A (hg19) ; chr8:g.31173056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173056G>A , CM000670.2:g.31173056G>A	GRCh38
NC_000008.10:g.31030572G>A , CM000670.1:g.31030572G>A	GRCh37
NC_000008.9:g.31150114G>A	NCBI36
NG_008870.1:g.144795G>A , LRG_524:g.144795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4253G>A MANE Select	ENSP00000298139.5:p.Ser1418Asn
ENST00000650667.1:c.*3867G>A	ENSP00000498593.1:n.*3867G>A
ENST00000651946.1:n.477G>A
ENST00000298139.5:c.4253G>A	ENSP00000298139.5:p.Ser1418Asn
ENST00000521620.5:n.2886G>A
NM_000553.4:c.4253G>A , LRG_524t1:c.4253G>A	NP_000544.2:p.Ser1418Asn
XM_011544639.1:c.4172G>A	XP_011542941.1:p.Ser1391Asn
XM_011544640.1:c.2654G>A	XP_011542942.1:p.Ser885Asn
XR_949643.1:n.88-1738C>T
XR_949644.1:n.88-1738C>T
XR_949645.1:n.88-1738C>T
XR_949646.1:n.88-1738C>T
XR_949647.1:n.701-1738C>T
XR_949648.1:n.603-1738C>T
NM_000553.5:c.4253G>A	NP_000544.2:p.Ser1418Asn
XM_011544639.3:c.4172G>A	XP_011542941.1:p.Ser1391Asn
XM_024447265.1:c.4043G>A	XP_024303033.1:p.Ser1348Asn
NM_000553.6:c.4253G>A MANE Select	NP_000544.2:p.Ser1418Asn