Canonical Allele Identifier: CA370916906

Gene: WRN

Linked Data

• dbSNP Id: rs1249635791
• gnomAD v2: 8-30925784-T-C
• gnomAD v4: 8-31068268-T-C
• MyVariant Identifiers: chr8:g.30925784T>C (hg19) ; chr8:g.31068268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068268T>C , CM000670.2:g.31068268T>C	GRCh38
NC_000008.10:g.30925784T>C , CM000670.1:g.30925784T>C	GRCh37
NC_000008.9:g.31045326T>C	NCBI36
NG_008870.1:g.40007T>C , LRG_524:g.40007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.665T>C MANE Select	ENSP00000298139.5:p.Ile222Thr
ENST00000650667.1:c.*279T>C	ENSP00000498593.1:n.*279T>C
ENST00000298139.5:c.665T>C	ENSP00000298139.5:p.Ile222Thr
NM_000553.4:c.665T>C , LRG_524t1:c.665T>C	NP_000544.2:p.Ile222Thr
XM_011544639.1:c.665T>C	XP_011542941.1:p.Ile222Thr
XR_949470.1:n.938T>C
XR_949471.1:n.938T>C
XR_949472.1:n.938T>C
NM_000553.5:c.665T>C	NP_000544.2:p.Ile222Thr
XM_011544639.3:c.665T>C	XP_011542941.1:p.Ile222Thr
XM_024447265.1:c.455T>C	XP_024303033.1:p.Ile152Thr
XR_949470.3:n.966T>C
XR_949471.3:n.966T>C
XR_949472.3:n.966T>C
NM_000553.6:c.665T>C MANE Select	NP_000544.2:p.Ile222Thr