Canonical Allele Identifier: CA4705052

Gene: WRN

Linked Data

• ClinVar Variation Id: 1418730
• ClinVar RCV Id: RCV001952258
• dbSNP Id: rs532384887
• ExAC: 8:31004573 A / T
• gnomAD v2: 8-31004573-A-T
• gnomAD v3: 8-31147057-A-T
• gnomAD v4: 8-31147057-A-T
• MyVariant Identifiers: chr8:g.31004573A>T (hg19) ; chr8:g.31147057A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3388A>T MANE Select	ENSP00000298139.5:p.Met1130Leu
ENST00000650667.1:c.*3002A>T	ENSP00000498593.1:n.*3002A>T
ENST00000298139.5:c.3388A>T	ENSP00000298139.5:p.Met1130Leu
ENST00000521620.5:n.2021A>T
NM_000553.4:c.3388A>T , LRG_524t1:c.3388A>T	NP_000544.2:p.Met1130Leu
XM_011544639.1:c.3307A>T	XP_011542941.1:p.Met1103Leu
XM_011544640.1:c.1789A>T	XP_011542942.1:p.Met597Leu
XR_949470.1:n.3661A>T
XR_949471.1:n.3661A>T
XR_949472.1:n.3661A>T
XR_949643.1:n.614+1451T>A
NM_000553.5:c.3388A>T	NP_000544.2:p.Met1130Leu
XM_011544639.3:c.3307A>T	XP_011542941.1:p.Met1103Leu
XM_024447265.1:c.3178A>T	XP_024303033.1:p.Met1060Leu
XR_949470.3:n.3689A>T
XR_949471.3:n.3689A>T
XR_949472.3:n.3689A>T
NM_000553.6:c.3388A>T MANE Select	NP_000544.2:p.Met1130Leu