Canonical Allele Identifier: CA4705053

Gene: WRN

Linked Data

• ClinVar Variation Id: 528180
• ClinVar RCV Id: RCV000633264
• dbSNP Id: rs774227681
• ExAC: 8:31004574 T / C
• gnomAD v2: 8-31004574-T-C
• gnomAD v3: 8-31147058-T-C
• gnomAD v4: 8-31147058-T-C
• MyVariant Identifiers: chr8:g.31004574T>C (hg19) ; chr8:g.31147058T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147058T>C , CM000670.2:g.31147058T>C	GRCh38
NC_000008.10:g.31004574T>C , CM000670.1:g.31004574T>C	GRCh37
NC_000008.9:g.31124116T>C	NCBI36
NG_008870.1:g.118797T>C , LRG_524:g.118797T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3389T>C MANE Select	ENSP00000298139.5:p.Met1130Thr
ENST00000650667.1:c.*3003T>C	ENSP00000498593.1:n.*3003T>C
ENST00000298139.5:c.3389T>C	ENSP00000298139.5:p.Met1130Thr
ENST00000521620.5:n.2022T>C
NM_000553.4:c.3389T>C , LRG_524t1:c.3389T>C	NP_000544.2:p.Met1130Thr
XM_011544639.1:c.3308T>C	XP_011542941.1:p.Met1103Thr
XM_011544640.1:c.1790T>C	XP_011542942.1:p.Met597Thr
XR_949470.1:n.3662T>C
XR_949471.1:n.3662T>C
XR_949472.1:n.3662T>C
XR_949643.1:n.614+1450A>G
NM_000553.5:c.3389T>C	NP_000544.2:p.Met1130Thr
XM_011544639.3:c.3308T>C	XP_011542941.1:p.Met1103Thr
XM_024447265.1:c.3179T>C	XP_024303033.1:p.Met1060Thr
XR_949470.3:n.3690T>C
XR_949471.3:n.3690T>C
XR_949472.3:n.3690T>C
NM_000553.6:c.3389T>C MANE Select	NP_000544.2:p.Met1130Thr