Canonical Allele Identifier: CA10587006

Gene: WRN

Linked Data

• ClinVar Variation Id: 256708
• ClinVar RCV Id: RCV000252196 ; RCV001618393 ; RCV002244070 ; RCV003316350
• dbSNP Id: rs2725364
• gnomAD v2: 8-31000012-T-C
• gnomAD v3: 8-31142496-T-C
• gnomAD v4: 8-31142496-T-C
• MyVariant Identifiers: chr8:g.31000012T>C (hg19) ; chr8:g.31142496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31142496T>C , CM000670.2:g.31142496T>C	GRCh38
NC_000008.10:g.31000012T>C , CM000670.1:g.31000012T>C	GRCh37
NC_000008.9:g.31119554T>C	NCBI36
NG_008870.1:g.114235T>C , LRG_524:g.114235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3234-130T>C MANE Select	ENSP00000298139.5:n.3234-130T>C
ENST00000650667.1:c.*2848-130T>C	ENSP00000498593.1:n.*2848-130T>C
ENST00000298139.5:c.3234-130T>C	ENSP00000298139.5:n.3234-130T>C
ENST00000521620.5:n.1867-130T>C
NM_000553.4:c.3234-130T>C , LRG_524t1:c.3234-130T>C	NP_000544.2:n.3234-130T>C
XM_011544639.1:c.3153-130T>C	XP_011542941.1:n.3153-130T>C
XM_011544640.1:c.1635-130T>C	XP_011542942.1:n.1635-130T>C
XR_949470.1:n.3507-130T>C
XR_949471.1:n.3507-130T>C
XR_949472.1:n.3507-130T>C
NM_000553.5:c.3234-130T>C	NP_000544.2:n.3234-130T>C
XM_011544639.3:c.3153-130T>C	XP_011542941.1:n.3153-130T>C
XM_024447265.1:c.3024-130T>C	XP_024303033.1:n.3024-130T>C
XR_949470.3:n.3535-130T>C
XR_949471.3:n.3535-130T>C
XR_949472.3:n.3535-130T>C
NM_000553.6:c.3234-130T>C MANE Select	NP_000544.2:n.3234-130T>C