Canonical Allele Identifier: CA4705050

Gene: WRN

Linked Data

• ClinVar Variation Id: 458446
• ClinVar RCV Id: RCV000548461
• dbSNP Id: rs776963381
• ExAC: 8:31004568 G / A
• gnomAD v2: 8-31004568-G-A
• gnomAD v3: 8-31147052-G-A
• gnomAD v4: 8-31147052-G-A
• MyVariant Identifiers: chr8:g.31004568G>A (hg19) ; chr8:g.31147052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147052G>A , CM000670.2:g.31147052G>A	GRCh38
NC_000008.10:g.31004568G>A , CM000670.1:g.31004568G>A	GRCh37
NC_000008.9:g.31124110G>A	NCBI36
NG_008870.1:g.118791G>A , LRG_524:g.118791G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3384-1G>A MANE Select	ENSP00000298139.5:n.3384-1G>A
ENST00000650667.1:c.*2998-1G>A	ENSP00000498593.1:n.*2998-1G>A
ENST00000298139.5:c.3384-1G>A	ENSP00000298139.5:n.3384-1G>A
ENST00000521620.5:n.2017-1G>A
NM_000553.4:c.3384-1G>A , LRG_524t1:c.3384-1G>A	NP_000544.2:n.3384-1G>A
XM_011544639.1:c.3303-1G>A	XP_011542941.1:n.3303-1G>A
XM_011544640.1:c.1785-1G>A	XP_011542942.1:n.1785-1G>A
XR_949470.1:n.3657-1G>A
XR_949471.1:n.3657-1G>A
XR_949472.1:n.3657-1G>A
XR_949643.1:n.614+1456C>T
NM_000553.5:c.3384-1G>A	NP_000544.2:n.3384-1G>A
XM_011544639.3:c.3303-1G>A	XP_011542941.1:n.3303-1G>A
XM_024447265.1:c.3174-1G>A	XP_024303033.1:n.3174-1G>A
XR_949470.3:n.3685-1G>A
XR_949471.3:n.3685-1G>A
XR_949472.3:n.3685-1G>A
NM_000553.6:c.3384-1G>A MANE Select	NP_000544.2:n.3384-1G>A