Canonical Allele Identifier: CA2686839727
Gene: WRN HGNC NCBI

Linked Data

gnomAD v4: 8-31147251-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147251A>C , CM000670.2:g.31147251A>C GRCh38
NC_000008.10:g.31004767A>C , CM000670.1:g.31004767A>C GRCh37
NC_000008.9:g.31124309A>C NCBI36
NG_008870.1:g.118990A>C , LRG_524:g.118990A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3460-113A>C MANE Select ENSP00000298139.5:n.3460-113A>C
ENST00000650667.1:c.*3074-113A>C ENSP00000498593.1:n.*3074-113A>C
ENST00000298139.5:c.3460-113A>C ENSP00000298139.5:n.3460-113A>C
ENST00000521620.5:n.2093-113A>C
NM_000553.4:c.3460-113A>C , LRG_524t1:c.3460-113A>C NP_000544.2:n.3460-113A>C
XM_011544639.1:c.3379-113A>C XP_011542941.1:n.3379-113A>C
XM_011544640.1:c.1861-113A>C XP_011542942.1:n.1861-113A>C
XR_949470.1:n.3733-113A>C
XR_949471.1:n.3733-113A>C
XR_949472.1:n.3733-113A>C
XR_949643.1:n.614+1257T>G
NM_000553.5:c.3460-113A>C NP_000544.2:n.3460-113A>C
XM_011544639.3:c.3379-113A>C XP_011542941.1:n.3379-113A>C
XM_024447265.1:c.3250-113A>C XP_024303033.1:n.3250-113A>C
XR_949470.3:n.3761-113A>C
XR_949471.3:n.3761-113A>C
XR_949472.3:n.3761-113A>C
NM_000553.6:c.3460-113A>C MANE Select NP_000544.2:n.3460-113A>C