Canonical Allele Identifier: CA4704517
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31091879G>A , CM000670.2:g.31091879G>A GRCh38
NC_000008.10:g.30949395G>A , CM000670.1:g.30949395G>A GRCh37
NC_000008.9:g.31068937G>A NCBI36
NG_008870.1:g.63618G>A , LRG_524:g.63618G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.1879G>A MANE Select ENSP00000298139.5:p.Val627Ile
ENST00000650667.1:c.*1493G>A ENSP00000498593.1:n.*1493G>A
ENST00000298139.5:c.1879G>A ENSP00000298139.5:p.Val627Ile
ENST00000521620.5:n.512G>A
NM_000553.4:c.1879G>A , LRG_524t1:c.1879G>A NP_000544.2:p.Val627Ile
XM_011544639.1:c.1798G>A XP_011542941.1:p.Val600Ile
XM_011544640.1:c.280G>A XP_011542942.1:p.Val94Ile
XR_949470.1:n.2152G>A
XR_949471.1:n.2152G>A
XR_949472.1:n.2152G>A
NM_000553.5:c.1879G>A NP_000544.2:p.Val627Ile
XM_011544639.3:c.1798G>A XP_011542941.1:p.Val600Ile
XM_024447265.1:c.1669G>A XP_024303033.1:p.Val557Ile
XR_949470.3:n.2180G>A
XR_949471.3:n.2180G>A
XR_949472.3:n.2180G>A
NM_000553.6:c.1879G>A MANE Select NP_000544.2:p.Val627Ile