Canonical Allele Identifier: CA460221655
Gene: WRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.30924614G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067098G>C , CM000670.2:g.31067098G>C GRCh38
NC_000008.10:g.30924614G>C , CM000670.1:g.30924614G>C GRCh37
NC_000008.9:g.31044156G>C NCBI36
NG_008870.1:g.38837G>C , LRG_524:g.38837G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.570G>C MANE Select ENSP00000298139.5:p.Leu190=
ENST00000650667.1:c.*184G>C ENSP00000498593.1:n.*184G>C
ENST00000298139.5:c.570G>C ENSP00000298139.5:p.Leu190=
NM_000553.4:c.570G>C , LRG_524t1:c.570G>C NP_000544.2:p.Leu190=
XM_011544639.1:c.570G>C XP_011542941.1:p.Leu190=
XR_949470.1:n.843G>C
XR_949471.1:n.843G>C
XR_949472.1:n.843G>C
NM_000553.5:c.570G>C NP_000544.2:p.Leu190=
XM_011544639.3:c.570G>C XP_011542941.1:p.Leu190=
XM_024447265.1:c.360G>C XP_024303033.1:p.Leu120=
XR_949470.3:n.871G>C
XR_949471.3:n.871G>C
XR_949472.3:n.871G>C
NM_000553.6:c.570G>C MANE Select NP_000544.2:p.Leu190=