Canonical Allele Identifier: CA580995320

Gene: WRN

Linked Data

• ClinVar Variation Id: 2840319
• ClinVar RCV Id: RCV003614544
• dbSNP Id: rs1239464875
• gnomAD v2: 8-30924706-C-T
• gnomAD v4: 8-31067190-C-T
• MyVariant Identifiers: chr8:g.30924706C>T (hg19) ; chr8:g.31067190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067190C>T , CM000670.2:g.31067190C>T	GRCh38
NC_000008.10:g.30924706C>T , CM000670.1:g.30924706C>T	GRCh37
NC_000008.9:g.31044248C>T	NCBI36
NG_008870.1:g.38929C>T , LRG_524:g.38929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.654+8C>T MANE Select	ENSP00000298139.5:n.654+8C>T
ENST00000650667.1:c.*268+8C>T	ENSP00000498593.1:n.*268+8C>T
ENST00000298139.5:c.654+8C>T	ENSP00000298139.5:n.654+8C>T
NM_000553.4:c.654+8C>T , LRG_524t1:c.654+8C>T	NP_000544.2:n.654+8C>T
XM_011544639.1:c.654+8C>T	XP_011542941.1:n.654+8C>T
XR_949470.1:n.927+8C>T
XR_949471.1:n.927+8C>T
XR_949472.1:n.927+8C>T
NM_000553.5:c.654+8C>T	NP_000544.2:n.654+8C>T
XM_011544639.3:c.654+8C>T	XP_011542941.1:n.654+8C>T
XM_024447265.1:c.444+8C>T	XP_024303033.1:n.444+8C>T
XR_949470.3:n.955+8C>T
XR_949471.3:n.955+8C>T
XR_949472.3:n.955+8C>T
NM_000553.6:c.654+8C>T MANE Select	NP_000544.2:n.654+8C>T