Canonical Allele Identifier: CA460228119

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30948372C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31090856C>T , CM000670.2:g.31090856C>T	GRCh38
NC_000008.10:g.30948372C>T , CM000670.1:g.30948372C>T	GRCh37
NC_000008.9:g.31067914C>T	NCBI36
NG_008870.1:g.62595C>T , LRG_524:g.62595C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.1743C>T MANE Select	ENSP00000298139.5:p.Phe581=
ENST00000650667.1:c.*1357C>T	ENSP00000498593.1:n.*1357C>T
ENST00000298139.5:c.1743C>T	ENSP00000298139.5:p.Phe581=
ENST00000521620.5:n.376C>T
NM_000553.4:c.1743C>T , LRG_524t1:c.1743C>T	NP_000544.2:p.Phe581=
XM_011544639.1:c.1662C>T	XP_011542941.1:p.Phe554=
XM_011544640.1:c.144C>T	XP_011542942.1:p.Phe48=
XR_949470.1:n.2016C>T
XR_949471.1:n.2016C>T
XR_949472.1:n.2016C>T
NM_000553.5:c.1743C>T	NP_000544.2:p.Phe581=
XM_011544639.3:c.1662C>T	XP_011542941.1:p.Phe554=
XM_024447265.1:c.1533C>T	XP_024303033.1:p.Phe511=
XR_949470.3:n.2044C>T
XR_949471.3:n.2044C>T
XR_949472.3:n.2044C>T
NM_000553.6:c.1743C>T MANE Select	NP_000544.2:p.Phe581=