Canonical Allele Identifier: CA370925252

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31004589A>C (hg19) ; chr8:g.31147073A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147073A>C , CM000670.2:g.31147073A>C	GRCh38
NC_000008.10:g.31004589A>C , CM000670.1:g.31004589A>C	GRCh37
NC_000008.9:g.31124131A>C	NCBI36
NG_008870.1:g.118812A>C , LRG_524:g.118812A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3404A>C MANE Select	ENSP00000298139.5:p.Glu1135Ala
ENST00000650667.1:c.*3018A>C	ENSP00000498593.1:n.*3018A>C
ENST00000298139.5:c.3404A>C	ENSP00000298139.5:p.Glu1135Ala
ENST00000521620.5:n.2037A>C
NM_000553.4:c.3404A>C , LRG_524t1:c.3404A>C	NP_000544.2:p.Glu1135Ala
XM_011544639.1:c.3323A>C	XP_011542941.1:p.Glu1108Ala
XM_011544640.1:c.1805A>C	XP_011542942.1:p.Glu602Ala
XR_949470.1:n.3677A>C
XR_949471.1:n.3677A>C
XR_949472.1:n.3677A>C
XR_949643.1:n.614+1435T>G
NM_000553.5:c.3404A>C	NP_000544.2:p.Glu1135Ala
XM_011544639.3:c.3323A>C	XP_011542941.1:p.Glu1108Ala
XM_024447265.1:c.3194A>C	XP_024303033.1:p.Glu1065Ala
XR_949470.3:n.3705A>C
XR_949471.3:n.3705A>C
XR_949472.3:n.3705A>C
NM_000553.6:c.3404A>C MANE Select	NP_000544.2:p.Glu1135Ala