Canonical Allele Identifier: CA174904590

Gene: WRN

Linked Data

• ClinVar Variation Id: 1027082
• ClinVar RCV Id: RCV001327631
• dbSNP Id: rs532384887
• gnomAD v3: 8-31147057-A-G
• gnomAD v4: 8-31147057-A-G
• MyVariant Identifiers: chr8:g.31004573A>G (hg19) ; chr8:g.31147057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147057A>G , CM000670.2:g.31147057A>G	GRCh38
NC_000008.10:g.31004573A>G , CM000670.1:g.31004573A>G	GRCh37
NC_000008.9:g.31124115A>G	NCBI36
NG_008870.1:g.118796A>G , LRG_524:g.118796A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3388A>G MANE Select	ENSP00000298139.5:p.Met1130Val
ENST00000650667.1:c.*3002A>G	ENSP00000498593.1:n.*3002A>G
ENST00000298139.5:c.3388A>G	ENSP00000298139.5:p.Met1130Val
ENST00000521620.5:n.2021A>G
NM_000553.4:c.3388A>G , LRG_524t1:c.3388A>G	NP_000544.2:p.Met1130Val
XM_011544639.1:c.3307A>G	XP_011542941.1:p.Met1103Val
XM_011544640.1:c.1789A>G	XP_011542942.1:p.Met597Val
XR_949470.1:n.3661A>G
XR_949471.1:n.3661A>G
XR_949472.1:n.3661A>G
XR_949643.1:n.614+1451T>C
NM_000553.5:c.3388A>G	NP_000544.2:p.Met1130Val
XM_011544639.3:c.3307A>G	XP_011542941.1:p.Met1103Val
XM_024447265.1:c.3178A>G	XP_024303033.1:p.Met1060Val
XR_949470.3:n.3689A>G
XR_949471.3:n.3689A>G
XR_949472.3:n.3689A>G
NM_000553.6:c.3388A>G MANE Select	NP_000544.2:p.Met1130Val