Canonical Allele Identifier: CA460221677
Gene: WRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.30924632C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067116C>T , CM000670.2:g.31067116C>T GRCh38
NC_000008.10:g.30924632C>T , CM000670.1:g.30924632C>T GRCh37
NC_000008.9:g.31044174C>T NCBI36
NG_008870.1:g.38855C>T , LRG_524:g.38855C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.588C>T MANE Select ENSP00000298139.5:p.Arg196=
ENST00000650667.1:c.*202C>T ENSP00000498593.1:n.*202C>T
ENST00000298139.5:c.588C>T ENSP00000298139.5:p.Arg196=
NM_000553.4:c.588C>T , LRG_524t1:c.588C>T NP_000544.2:p.Arg196=
XM_011544639.1:c.588C>T XP_011542941.1:p.Arg196=
XR_949470.1:n.861C>T
XR_949471.1:n.861C>T
XR_949472.1:n.861C>T
NM_000553.5:c.588C>T NP_000544.2:p.Arg196=
XM_011544639.3:c.588C>T XP_011542941.1:p.Arg196=
XM_024447265.1:c.378C>T XP_024303033.1:p.Arg126=
XR_949470.3:n.889C>T
XR_949471.3:n.889C>T
XR_949472.3:n.889C>T
NM_000553.6:c.588C>T MANE Select NP_000544.2:p.Arg196=