Canonical Allele Identifier: CA370911646

Gene: WRN

Linked Data

• ClinVar Variation Id: 2005162
• ClinVar RCV Id: RCV002820818
• dbSNP Id: rs1804161839
• gnomAD v4: 8-31173029-T-C
• MyVariant Identifiers: chr8:g.31030545T>C (hg19) ; chr8:g.31173029T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173029T>C , CM000670.2:g.31173029T>C	GRCh38
NC_000008.10:g.31030545T>C , CM000670.1:g.31030545T>C	GRCh37
NC_000008.9:g.31150087T>C	NCBI36
NG_008870.1:g.144768T>C , LRG_524:g.144768T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4226T>C MANE Select	ENSP00000298139.5:p.Val1409Ala
ENST00000650667.1:c.*3840T>C	ENSP00000498593.1:n.*3840T>C
ENST00000651946.1:n.450T>C
ENST00000298139.5:c.4226T>C	ENSP00000298139.5:p.Val1409Ala
ENST00000521620.5:n.2859T>C
NM_000553.4:c.4226T>C , LRG_524t1:c.4226T>C	NP_000544.2:p.Val1409Ala
XM_011544639.1:c.4145T>C	XP_011542941.1:p.Val1382Ala
XM_011544640.1:c.2627T>C	XP_011542942.1:p.Val876Ala
XR_949643.1:n.88-1711A>G
XR_949644.1:n.88-1711A>G
XR_949645.1:n.88-1711A>G
XR_949646.1:n.88-1711A>G
XR_949647.1:n.701-1711A>G
XR_949648.1:n.603-1711A>G
NM_000553.5:c.4226T>C	NP_000544.2:p.Val1409Ala
XM_011544639.3:c.4145T>C	XP_011542941.1:p.Val1382Ala
XM_024447265.1:c.4016T>C	XP_024303033.1:p.Val1339Ala
NM_000553.6:c.4226T>C MANE Select	NP_000544.2:p.Val1409Ala