Canonical Allele Identifier: CA4705318

Gene: WRN

Linked Data

• dbSNP Id: rs751322468
• ExAC: 8:31030657 T / G
• gnomAD v2: 8-31030657-T-G
• gnomAD v3: 8-31173141-T-G
• gnomAD v4: 8-31173141-T-G
• MyVariant Identifiers: chr8:g.31030657T>G (hg19) ; chr8:g.31173141T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173141T>G , CM000670.2:g.31173141T>G	GRCh38
NC_000008.10:g.31030657T>G , CM000670.1:g.31030657T>G	GRCh37
NC_000008.9:g.31150199T>G	NCBI36
NG_008870.1:g.144880T>G , LRG_524:g.144880T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.*39T>G MANE Select	ENSP00000298139.5:n.*39T>G
ENST00000650667.1:c.*3952T>G	ENSP00000498593.1:n.*3952T>G
ENST00000651946.1:n.562T>G
ENST00000298139.5:c.*39T>G	ENSP00000298139.5:n.*39T>G
ENST00000521620.5:n.2971T>G
NM_000553.4:c.*39T>G , LRG_524t1:c.*39T>G	NP_000544.2:n.*39T>G
XM_011544639.1:c.*39T>G	XP_011542941.1:n.*39T>G
XM_011544640.1:c.*39T>G	XP_011542942.1:n.*39T>G
XR_949643.1:n.88-1823A>C
XR_949644.1:n.88-1823A>C
XR_949645.1:n.88-1823A>C
XR_949646.1:n.88-1823A>C
XR_949647.1:n.701-1823A>C
XR_949648.1:n.603-1823A>C
NM_000553.5:c.*39T>G	NP_000544.2:n.*39T>G
XM_011544639.3:c.*39T>G	XP_011542941.1:n.*39T>G
XM_024447265.1:c.*39T>G	XP_024303033.1:n.*39T>G
NM_000553.6:c.*39T>G MANE Select	NP_000544.2:n.*39T>G