Canonical Allele Identifier: CA4705047

Gene: WRN

Linked Data

• ClinVar Variation Id: 2718241
• ClinVar RCV Id: RCV003506132
• dbSNP Id: rs772510864
• ExAC: 8:31004552 T / C
• gnomAD v2: 8-31004552-T-C
• gnomAD v4: 8-31147036-T-C
• MyVariant Identifiers: chr8:g.31004552T>C (hg19) ; chr8:g.31147036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147036T>C , CM000670.2:g.31147036T>C	GRCh38
NC_000008.10:g.31004552T>C , CM000670.1:g.31004552T>C	GRCh37
NC_000008.9:g.31124094T>C	NCBI36
NG_008870.1:g.118775T>C , LRG_524:g.118775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3384-17T>C MANE Select	ENSP00000298139.5:n.3384-17T>C
ENST00000650667.1:c.*2998-17T>C	ENSP00000498593.1:n.*2998-17T>C
ENST00000298139.5:c.3384-17T>C	ENSP00000298139.5:n.3384-17T>C
ENST00000521620.5:n.2017-17T>C
NM_000553.4:c.3384-17T>C , LRG_524t1:c.3384-17T>C	NP_000544.2:n.3384-17T>C
XM_011544639.1:c.3303-17T>C	XP_011542941.1:n.3303-17T>C
XM_011544640.1:c.1785-17T>C	XP_011542942.1:n.1785-17T>C
XR_949470.1:n.3657-17T>C
XR_949471.1:n.3657-17T>C
XR_949472.1:n.3657-17T>C
XR_949643.1:n.614+1472A>G
NM_000553.5:c.3384-17T>C	NP_000544.2:n.3384-17T>C
XM_011544639.3:c.3303-17T>C	XP_011542941.1:n.3303-17T>C
XM_024447265.1:c.3174-17T>C	XP_024303033.1:n.3174-17T>C
XR_949470.3:n.3685-17T>C
XR_949471.3:n.3685-17T>C
XR_949472.3:n.3685-17T>C
NM_000553.6:c.3384-17T>C MANE Select	NP_000544.2:n.3384-17T>C