Canonical Allele Identifier: CA4704144

Gene: WRN

Linked Data

• ClinVar Variation Id: 2883153
• ClinVar RCV Id: RCV003615112
• dbSNP Id: rs371769600
• ExAC: 8:30925854 A / G
• gnomAD v2: 8-30925854-A-G
• MyVariant Identifiers: chr8:g.30925854A>G (hg19) ; chr8:g.31068338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068338A>G , CM000670.2:g.31068338A>G	GRCh38
NC_000008.10:g.30925854A>G , CM000670.1:g.30925854A>G	GRCh37
NC_000008.9:g.31045396A>G	NCBI36
NG_008870.1:g.40077A>G , LRG_524:g.40077A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.724+11A>G MANE Select	ENSP00000298139.5:n.724+11A>G
ENST00000650667.1:c.*338+11A>G	ENSP00000498593.1:n.*338+11A>G
ENST00000651642.1:c.19+11A>G	ENSP00000498779.1:n.19+11A>G
ENST00000298139.5:c.724+11A>G	ENSP00000298139.5:n.724+11A>G
NM_000553.4:c.724+11A>G , LRG_524t1:c.724+11A>G	NP_000544.2:n.724+11A>G
XM_011544639.1:c.724+11A>G	XP_011542941.1:n.724+11A>G
XR_949470.1:n.997+11A>G
XR_949471.1:n.997+11A>G
XR_949472.1:n.997+11A>G
NM_000553.5:c.724+11A>G	NP_000544.2:n.724+11A>G
XM_011544639.3:c.724+11A>G	XP_011542941.1:n.724+11A>G
XM_024447265.1:c.514+11A>G	XP_024303033.1:n.514+11A>G
XR_949470.3:n.1025+11A>G
XR_949471.3:n.1025+11A>G
XR_949472.3:n.1025+11A>G
NM_000553.6:c.724+11A>G MANE Select	NP_000544.2:n.724+11A>G