Canonical Allele Identifier: CA4705275
Gene: WRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31167219A>G , CM000670.2:g.31167219A>G GRCh38
NC_000008.10:g.31024735A>G , CM000670.1:g.31024735A>G GRCh37
NC_000008.9:g.31144277A>G NCBI36
NG_008870.1:g.138958A>G , LRG_524:g.138958A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.4180A>G MANE Select ENSP00000298139.5:p.Ile1394Val
ENST00000650667.1:c.*3794A>G ENSP00000498593.1:n.*3794A>G
ENST00000651946.1:n.404A>G
ENST00000298139.5:c.4180A>G ENSP00000298139.5:p.Ile1394Val
ENST00000521620.5:n.2813A>G
NM_000553.4:c.4180A>G , LRG_524t1:c.4180A>G NP_000544.2:p.Ile1394Val
XM_011544639.1:c.4099A>G XP_011542941.1:p.Ile1367Val
XM_011544640.1:c.2581A>G XP_011542942.1:p.Ile861Val
XR_949643.1:n.266-27T>C
XR_949644.1:n.266-27T>C
XR_949645.1:n.266-27T>C
XR_949646.1:n.266-27T>C
XR_949647.1:n.879-27T>C
XR_949648.1:n.781-27T>C
NM_000553.5:c.4180A>G NP_000544.2:p.Ile1394Val
XM_011544639.3:c.4099A>G XP_011542941.1:p.Ile1367Val
XM_024447265.1:c.3970A>G XP_024303033.1:p.Ile1324Val
NM_000553.6:c.4180A>G MANE Select NP_000544.2:p.Ile1394Val