Canonical Allele Identifier: CA2686838015
Gene: WRN HGNC NCBI

Linked Data

gnomAD v4: 8-31120236-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31120236T>C , CM000670.2:g.31120236T>C GRCh38
NC_000008.10:g.30977752T>C , CM000670.1:g.30977752T>C GRCh37
NC_000008.9:g.31097294T>C NCBI36
NG_008870.1:g.91975T>C , LRG_524:g.91975T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.2449-7T>C MANE Select ENSP00000298139.5:n.2449-7T>C
ENST00000650667.1:c.*2063-7T>C ENSP00000498593.1:n.*2063-7T>C
ENST00000298139.5:c.2449-7T>C ENSP00000298139.5:n.2449-7T>C
ENST00000520169.1:n.281T>C
ENST00000521620.5:n.1082-7T>C
NM_000553.4:c.2449-7T>C , LRG_524t1:c.2449-7T>C NP_000544.2:n.2449-7T>C
XM_011544639.1:c.2368-7T>C XP_011542941.1:n.2368-7T>C
XM_011544640.1:c.850-7T>C XP_011542942.1:n.850-7T>C
XR_949470.1:n.2722-7T>C
XR_949471.1:n.2722-7T>C
XR_949472.1:n.2722-7T>C
NM_000553.5:c.2449-7T>C NP_000544.2:n.2449-7T>C
XM_011544639.3:c.2368-7T>C XP_011542941.1:n.2368-7T>C
XM_024447265.1:c.2239-7T>C XP_024303033.1:n.2239-7T>C
XR_949470.3:n.2750-7T>C
XR_949471.3:n.2750-7T>C
XR_949472.3:n.2750-7T>C
NM_000553.6:c.2449-7T>C MANE Select NP_000544.2:n.2449-7T>C