Canonical Allele Identifier: CA370916885

Gene: WRN

Linked Data

• dbSNP Id: rs1306900223
• gnomAD v2: 8-30925780-T-G
• MyVariant Identifiers: chr8:g.30925780T>G (hg19) ; chr8:g.31068264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068264T>G , CM000670.2:g.31068264T>G	GRCh38
NC_000008.10:g.30925780T>G , CM000670.1:g.30925780T>G	GRCh37
NC_000008.9:g.31045322T>G	NCBI36
NG_008870.1:g.40003T>G , LRG_524:g.40003T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.661T>G MANE Select	ENSP00000298139.5:p.Phe221Val
ENST00000650667.1:c.*275T>G	ENSP00000498593.1:n.*275T>G
ENST00000298139.5:c.661T>G	ENSP00000298139.5:p.Phe221Val
NM_000553.4:c.661T>G , LRG_524t1:c.661T>G	NP_000544.2:p.Phe221Val
XM_011544639.1:c.661T>G	XP_011542941.1:p.Phe221Val
XR_949470.1:n.934T>G
XR_949471.1:n.934T>G
XR_949472.1:n.934T>G
NM_000553.5:c.661T>G	NP_000544.2:p.Phe221Val
XM_011544639.3:c.661T>G	XP_011542941.1:p.Phe221Val
XM_024447265.1:c.451T>G	XP_024303033.1:p.Phe151Val
XR_949470.3:n.962T>G
XR_949471.3:n.962T>G
XR_949472.3:n.962T>G
NM_000553.6:c.661T>G MANE Select	NP_000544.2:p.Phe221Val