Canonical Allele Identifier: CA460223967

Gene: WRN

Linked Data

• ClinVar Variation Id: 2658527
• ClinVar RCV Id: RCV003436851
• MyVariant Identifiers: chr8:g.31004623G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147107G>C , CM000670.2:g.31147107G>C	GRCh38
NC_000008.10:g.31004623G>C , CM000670.1:g.31004623G>C	GRCh37
NC_000008.9:g.31124165G>C	NCBI36
NG_008870.1:g.118846G>C , LRG_524:g.118846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3438G>C MANE Select	ENSP00000298139.5:p.Ser1146=
ENST00000650667.1:c.*3052G>C	ENSP00000498593.1:n.*3052G>C
ENST00000298139.5:c.3438G>C	ENSP00000298139.5:p.Ser1146=
ENST00000521620.5:n.2071G>C
NM_000553.4:c.3438G>C , LRG_524t1:c.3438G>C	NP_000544.2:p.Ser1146=
XM_011544639.1:c.3357G>C	XP_011542941.1:p.Ser1119=
XM_011544640.1:c.1839G>C	XP_011542942.1:p.Ser613=
XR_949470.1:n.3711G>C
XR_949471.1:n.3711G>C
XR_949472.1:n.3711G>C
XR_949643.1:n.614+1401C>G
NM_000553.5:c.3438G>C	NP_000544.2:p.Ser1146=
XM_011544639.3:c.3357G>C	XP_011542941.1:p.Ser1119=
XM_024447265.1:c.3228G>C	XP_024303033.1:p.Ser1076=
XR_949470.3:n.3739G>C
XR_949471.3:n.3739G>C
XR_949472.3:n.3739G>C
NM_000553.6:c.3438G>C MANE Select	NP_000544.2:p.Ser1146=