Canonical Allele Identifier: CA581428593

Gene: WRN

Linked Data

• dbSNP Id: rs1172064798
• gnomAD v2: 8-31004531-A-G
• gnomAD v3: 8-31147015-A-G
• gnomAD v4: 8-31147015-A-G
• MyVariant Identifiers: chr8:g.31004531A>G (hg19) ; chr8:g.31147015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147015A>G , CM000670.2:g.31147015A>G	GRCh38
NC_000008.10:g.31004531A>G , CM000670.1:g.31004531A>G	GRCh37
NC_000008.9:g.31124073A>G	NCBI36
NG_008870.1:g.118754A>G , LRG_524:g.118754A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3384-38A>G MANE Select	ENSP00000298139.5:n.3384-38A>G
ENST00000650667.1:c.*2998-38A>G	ENSP00000498593.1:n.*2998-38A>G
ENST00000298139.5:c.3384-38A>G	ENSP00000298139.5:n.3384-38A>G
ENST00000521620.5:n.2017-38A>G
NM_000553.4:c.3384-38A>G , LRG_524t1:c.3384-38A>G	NP_000544.2:n.3384-38A>G
XM_011544639.1:c.3303-38A>G	XP_011542941.1:n.3303-38A>G
XM_011544640.1:c.1785-38A>G	XP_011542942.1:n.1785-38A>G
XR_949470.1:n.3657-38A>G
XR_949471.1:n.3657-38A>G
XR_949472.1:n.3657-38A>G
XR_949643.1:n.614+1493T>C
NM_000553.5:c.3384-38A>G	NP_000544.2:n.3384-38A>G
XM_011544639.3:c.3303-38A>G	XP_011542941.1:n.3303-38A>G
XM_024447265.1:c.3174-38A>G	XP_024303033.1:n.3174-38A>G
XR_949470.3:n.3685-38A>G
XR_949471.3:n.3685-38A>G
XR_949472.3:n.3685-38A>G
NM_000553.6:c.3384-38A>G MANE Select	NP_000544.2:n.3384-38A>G