Canonical Allele Identifier: CA4705049

Gene: WRN

Linked Data

• ClinVar Variation Id: 2141688
• ClinVar RCV Id: RCV003058675
• dbSNP Id: rs372382340
• ExAC: 8:31004567 A / G
• gnomAD v2: 8-31004567-A-G
• gnomAD v3: 8-31147051-A-G
• gnomAD v4: 8-31147051-A-G
• MyVariant Identifiers: chr8:g.31004567A>G (hg19) ; chr8:g.31147051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147051A>G , CM000670.2:g.31147051A>G	GRCh38
NC_000008.10:g.31004567A>G , CM000670.1:g.31004567A>G	GRCh37
NC_000008.9:g.31124109A>G	NCBI36
NG_008870.1:g.118790A>G , LRG_524:g.118790A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3384-2A>G MANE Select	ENSP00000298139.5:n.3384-2A>G
ENST00000650667.1:c.*2998-2A>G	ENSP00000498593.1:n.*2998-2A>G
ENST00000298139.5:c.3384-2A>G	ENSP00000298139.5:n.3384-2A>G
ENST00000521620.5:n.2017-2A>G
NM_000553.4:c.3384-2A>G , LRG_524t1:c.3384-2A>G	NP_000544.2:n.3384-2A>G
XM_011544639.1:c.3303-2A>G	XP_011542941.1:n.3303-2A>G
XM_011544640.1:c.1785-2A>G	XP_011542942.1:n.1785-2A>G
XR_949470.1:n.3657-2A>G
XR_949471.1:n.3657-2A>G
XR_949472.1:n.3657-2A>G
XR_949643.1:n.614+1457T>C
NM_000553.5:c.3384-2A>G	NP_000544.2:n.3384-2A>G
XM_011544639.3:c.3303-2A>G	XP_011542941.1:n.3303-2A>G
XM_024447265.1:c.3174-2A>G	XP_024303033.1:n.3174-2A>G
XR_949470.3:n.3685-2A>G
XR_949471.3:n.3685-2A>G
XR_949472.3:n.3685-2A>G
NM_000553.6:c.3384-2A>G MANE Select	NP_000544.2:n.3384-2A>G