Canonical Allele Identifier: CA370925123

Gene: WRN

Linked Data

• ClinVar Variation Id: 1484397
• ClinVar RCV Id: RCV002005765
• dbSNP Id: rs776963381
• gnomAD v2: 8-31004568-G-T
• MyVariant Identifiers: chr8:g.31004568G>T (hg19) ; chr8:g.31147052G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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