Canonical Allele Identifier: CA580995279

Gene: WRN

Linked Data

• dbSNP Id: rs1451167759
• gnomAD v2: 8-30924539-T-C
• gnomAD v3: 8-31067023-T-C
• gnomAD v4: 8-31067023-T-C
• MyVariant Identifiers: chr8:g.30924539T>C (hg19) ; chr8:g.31067023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067023T>C , CM000670.2:g.31067023T>C	GRCh38
NC_000008.10:g.30924539T>C , CM000670.1:g.30924539T>C	GRCh37
NC_000008.9:g.31044081T>C	NCBI36
NG_008870.1:g.38762T>C , LRG_524:g.38762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.505-10T>C MANE Select	ENSP00000298139.5:n.505-10T>C
ENST00000650667.1:c.*119-10T>C	ENSP00000498593.1:n.*119-10T>C
ENST00000298139.5:c.505-10T>C	ENSP00000298139.5:n.505-10T>C
NM_000553.4:c.505-10T>C , LRG_524t1:c.505-10T>C	NP_000544.2:n.505-10T>C
XM_011544639.1:c.505-10T>C	XP_011542941.1:n.505-10T>C
XR_949470.1:n.778-10T>C
XR_949471.1:n.778-10T>C
XR_949472.1:n.778-10T>C
NM_000553.5:c.505-10T>C	NP_000544.2:n.505-10T>C
XM_011544639.3:c.505-10T>C	XP_011542941.1:n.505-10T>C
XM_024447265.1:c.295-10T>C	XP_024303033.1:n.295-10T>C
XR_949470.3:n.806-10T>C
XR_949471.3:n.806-10T>C
XR_949472.3:n.806-10T>C
NM_000553.6:c.505-10T>C MANE Select	NP_000544.2:n.505-10T>C