Canonical Allele Identifier: CA2686839661
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs2130438046
gnomAD v4: 8-31147002-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147002A>C , CM000670.2:g.31147002A>C GRCh38
NC_000008.10:g.31004518A>C , CM000670.1:g.31004518A>C GRCh37
NC_000008.9:g.31124060A>C NCBI36
NG_008870.1:g.118741A>C , LRG_524:g.118741A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3384-51A>C MANE Select ENSP00000298139.5:n.3384-51A>C
ENST00000650667.1:c.*2998-51A>C ENSP00000498593.1:n.*2998-51A>C
ENST00000298139.5:c.3384-51A>C ENSP00000298139.5:n.3384-51A>C
ENST00000521620.5:n.2017-51A>C
NM_000553.4:c.3384-51A>C , LRG_524t1:c.3384-51A>C NP_000544.2:n.3384-51A>C
XM_011544639.1:c.3303-51A>C XP_011542941.1:n.3303-51A>C
XM_011544640.1:c.1785-51A>C XP_011542942.1:n.1785-51A>C
XR_949470.1:n.3657-51A>C
XR_949471.1:n.3657-51A>C
XR_949472.1:n.3657-51A>C
XR_949643.1:n.614+1506T>G
NM_000553.5:c.3384-51A>C NP_000544.2:n.3384-51A>C
XM_011544639.3:c.3303-51A>C XP_011542941.1:n.3303-51A>C
XM_024447265.1:c.3174-51A>C XP_024303033.1:n.3174-51A>C
XR_949470.3:n.3685-51A>C
XR_949471.3:n.3685-51A>C
XR_949472.3:n.3685-51A>C
NM_000553.6:c.3384-51A>C MANE Select NP_000544.2:n.3384-51A>C