Canonical Allele Identifier: CA4704951

Gene: WRN

Linked Data

• ClinVar Variation Id: 238147
• ClinVar RCV Id: RCV000231433
• dbSNP Id: rs377226126
• ExAC: 8:30999188 T / C
• gnomAD v2: 8-30999188-T-C
• gnomAD v3: 8-31141672-T-C
• gnomAD v4: 8-31141672-T-C
• MyVariant Identifiers: chr8:g.30999188T>C (hg19) ; chr8:g.31141672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141672T>C , CM000670.2:g.31141672T>C	GRCh38
NC_000008.10:g.30999188T>C , CM000670.1:g.30999188T>C	GRCh37
NC_000008.9:g.31118730T>C	NCBI36
NG_008870.1:g.113411T>C , LRG_524:g.113411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3139-9T>C MANE Select	ENSP00000298139.5:n.3139-9T>C
ENST00000650667.1:c.*2753-9T>C	ENSP00000498593.1:n.*2753-9T>C
ENST00000298139.5:c.3139-9T>C	ENSP00000298139.5:n.3139-9T>C
ENST00000521620.5:n.1772-9T>C
NM_000553.4:c.3139-9T>C , LRG_524t1:c.3139-9T>C	NP_000544.2:n.3139-9T>C
XM_011544639.1:c.3058-9T>C	XP_011542941.1:n.3058-9T>C
XM_011544640.1:c.1540-9T>C	XP_011542942.1:n.1540-9T>C
XR_949470.1:n.3412-9T>C
XR_949471.1:n.3412-9T>C
XR_949472.1:n.3412-9T>C
NM_000553.5:c.3139-9T>C	NP_000544.2:n.3139-9T>C
XM_011544639.3:c.3058-9T>C	XP_011542941.1:n.3058-9T>C
XM_024447265.1:c.2929-9T>C	XP_024303033.1:n.2929-9T>C
XR_949470.3:n.3440-9T>C
XR_949471.3:n.3440-9T>C
XR_949472.3:n.3440-9T>C
NM_000553.6:c.3139-9T>C MANE Select	NP_000544.2:n.3139-9T>C