Canonical Allele Identifier: CA4704760

Gene: WRN

Linked Data

• ClinVar Variation Id: 404049
• ClinVar RCV Id: RCV000459444
• dbSNP Id: rs774308552
• ExAC: 8:30977760 G / C
• gnomAD v2: 8-30977760-G-C
• gnomAD v4: 8-31120244-G-C
• MyVariant Identifiers: chr8:g.30977760G>C (hg19) ; chr8:g.31120244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31120244G>C , CM000670.2:g.31120244G>C	GRCh38
NC_000008.10:g.30977760G>C , CM000670.1:g.30977760G>C	GRCh37
NC_000008.9:g.31097302G>C	NCBI36
NG_008870.1:g.91983G>C , LRG_524:g.91983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.2450G>C MANE Select	ENSP00000298139.5:p.Cys817Ser
ENST00000650667.1:c.*2064G>C	ENSP00000498593.1:n.*2064G>C
ENST00000298139.5:c.2450G>C	ENSP00000298139.5:p.Cys817Ser
ENST00000520169.1:n.289G>C
ENST00000521620.5:n.1083G>C
NM_000553.4:c.2450G>C , LRG_524t1:c.2450G>C	NP_000544.2:p.Cys817Ser
XM_011544639.1:c.2369G>C	XP_011542941.1:p.Cys790Ser
XM_011544640.1:c.851G>C	XP_011542942.1:p.Cys284Ser
XR_949470.1:n.2723G>C
XR_949471.1:n.2723G>C
XR_949472.1:n.2723G>C
NM_000553.5:c.2450G>C	NP_000544.2:p.Cys817Ser
XM_011544639.3:c.2369G>C	XP_011542941.1:p.Cys790Ser
XM_024447265.1:c.2240G>C	XP_024303033.1:p.Cys747Ser
XR_949470.3:n.2751G>C
XR_949471.3:n.2751G>C
XR_949472.3:n.2751G>C
NM_000553.6:c.2450G>C MANE Select	NP_000544.2:p.Cys817Ser