Canonical Allele Identifier: CA162743
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147091C>T , CM000670.2:g.31147091C>T GRCh38
NC_000008.10:g.31004607C>T , CM000670.1:g.31004607C>T GRCh37
NC_000008.9:g.31124149C>T NCBI36
NG_008870.1:g.118830C>T , LRG_524:g.118830C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3422C>T MANE Select ENSP00000298139.5:p.Ser1141Leu
ENST00000650667.1:c.*3036C>T ENSP00000498593.1:n.*3036C>T
ENST00000298139.5:c.3422C>T ENSP00000298139.5:p.Ser1141Leu
ENST00000521620.5:n.2055C>T
NM_000553.4:c.3422C>T , LRG_524t1:c.3422C>T NP_000544.2:p.Ser1141Leu
XM_011544639.1:c.3341C>T XP_011542941.1:p.Ser1114Leu
XM_011544640.1:c.1823C>T XP_011542942.1:p.Ser608Leu
XR_949470.1:n.3695C>T
XR_949471.1:n.3695C>T
XR_949472.1:n.3695C>T
XR_949643.1:n.614+1417G>A
NM_000553.5:c.3422C>T NP_000544.2:p.Ser1141Leu
XM_011544639.3:c.3341C>T XP_011542941.1:p.Ser1114Leu
XM_024447265.1:c.3212C>T XP_024303033.1:p.Ser1071Leu
XR_949470.3:n.3723C>T
XR_949471.3:n.3723C>T
XR_949472.3:n.3723C>T
NM_000553.6:c.3422C>T MANE Select NP_000544.2:p.Ser1141Leu