Canonical Allele Identifier: CA370915343

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30977813C>A (hg19) ; chr8:g.31120297C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31120297C>A , CM000670.2:g.31120297C>A	GRCh38
NC_000008.10:g.30977813C>A , CM000670.1:g.30977813C>A	GRCh37
NC_000008.9:g.31097355C>A	NCBI36
NG_008870.1:g.92036C>A , LRG_524:g.92036C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.2503C>A MANE Select	ENSP00000298139.5:p.Gln835Lys
ENST00000650667.1:c.*2117C>A	ENSP00000498593.1:n.*2117C>A
ENST00000298139.5:c.2503C>A	ENSP00000298139.5:p.Gln835Lys
ENST00000520169.1:n.342C>A
ENST00000521620.5:n.1136C>A
NM_000553.4:c.2503C>A , LRG_524t1:c.2503C>A	NP_000544.2:p.Gln835Lys
XM_011544639.1:c.2422C>A	XP_011542941.1:p.Gln808Lys
XM_011544640.1:c.904C>A	XP_011542942.1:p.Gln302Lys
XR_949470.1:n.2776C>A
XR_949471.1:n.2776C>A
XR_949472.1:n.2776C>A
NM_000553.5:c.2503C>A	NP_000544.2:p.Gln835Lys
XM_011544639.3:c.2422C>A	XP_011542941.1:p.Gln808Lys
XM_024447265.1:c.2293C>A	XP_024303033.1:p.Gln765Lys
XR_949470.3:n.2804C>A
XR_949471.3:n.2804C>A
XR_949472.3:n.2804C>A
NM_000553.6:c.2503C>A MANE Select	NP_000544.2:p.Gln835Lys