Canonical Allele Identifier: CA10630898
Gene: WRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31154769T>C , CM000670.2:g.31154769T>C GRCh38
NC_000008.10:g.31012285T>C , CM000670.1:g.31012285T>C GRCh37
NC_000008.9:g.31131827T>C NCBI36
NG_008870.1:g.126508T>C , LRG_524:g.126508T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3819+14T>C MANE Select ENSP00000298139.5:n.3819+14T>C
ENST00000650667.1:c.*3433+14T>C ENSP00000498593.1:n.*3433+14T>C
ENST00000298139.5:c.3819+14T>C ENSP00000298139.5:n.3819+14T>C
ENST00000521620.5:n.2452+14T>C
NM_000553.4:c.3819+14T>C , LRG_524t1:c.3819+14T>C NP_000544.2:n.3819+14T>C
XM_011544639.1:c.3738+14T>C XP_011542941.1:n.3738+14T>C
XM_011544640.1:c.2220+14T>C XP_011542942.1:n.2220+14T>C
XR_949470.1:n.4092+14T>C
XR_949471.1:n.4092+14T>C
XR_949472.1:n.4092+14T>C
XR_949643.1:n.457-6104A>G
XR_949644.1:n.381-6104A>G
XR_949647.1:n.1070-6104A>G
XR_949648.1:n.972-6104A>G
NM_000553.5:c.3819+14T>C NP_000544.2:n.3819+14T>C
XM_011544639.3:c.3738+14T>C XP_011542941.1:n.3738+14T>C
XM_024447265.1:c.3609+14T>C XP_024303033.1:n.3609+14T>C
XR_949470.3:n.4120+14T>C
XR_949471.3:n.4120+14T>C
XR_949472.3:n.4120+14T>C
NM_000553.6:c.3819+14T>C MANE Select NP_000544.2:n.3819+14T>C