Canonical Allele Identifier: CA4704132

Gene: WRN

Linked Data

• dbSNP Id: rs753347292
• ExAC: 8:30925764 T / C
• gnomAD v2: 8-30925764-T-C
• gnomAD v4: 8-31068248-T-C
• MyVariant Identifiers: chr8:g.30925764T>C (hg19) ; chr8:g.31068248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068248T>C , CM000670.2:g.31068248T>C	GRCh38
NC_000008.10:g.30925764T>C , CM000670.1:g.30925764T>C	GRCh37
NC_000008.9:g.31045306T>C	NCBI36
NG_008870.1:g.39987T>C , LRG_524:g.39987T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.655-10T>C MANE Select	ENSP00000298139.5:n.655-10T>C
ENST00000650667.1:c.*269-10T>C	ENSP00000498593.1:n.*269-10T>C
ENST00000298139.5:c.655-10T>C	ENSP00000298139.5:n.655-10T>C
NM_000553.4:c.655-10T>C , LRG_524t1:c.655-10T>C	NP_000544.2:n.655-10T>C
XM_011544639.1:c.655-10T>C	XP_011542941.1:n.655-10T>C
XR_949470.1:n.928-10T>C
XR_949471.1:n.928-10T>C
XR_949472.1:n.928-10T>C
NM_000553.5:c.655-10T>C	NP_000544.2:n.655-10T>C
XM_011544639.3:c.655-10T>C	XP_011542941.1:n.655-10T>C
XM_024447265.1:c.445-10T>C	XP_024303033.1:n.445-10T>C
XR_949470.3:n.956-10T>C
XR_949471.3:n.956-10T>C
XR_949472.3:n.956-10T>C
NM_000553.6:c.655-10T>C MANE Select	NP_000544.2:n.655-10T>C