Canonical Allele Identifier: CA370923065

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999242A>T (hg19) ; chr8:g.31141726A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141726A>T , CM000670.2:g.31141726A>T	GRCh38
NC_000008.10:g.30999242A>T , CM000670.1:g.30999242A>T	GRCh37
NC_000008.9:g.31118784A>T	NCBI36
NG_008870.1:g.113465A>T , LRG_524:g.113465A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3184A>T MANE Select	ENSP00000298139.5:p.Ile1062Phe
ENST00000650667.1:c.*2798A>T	ENSP00000498593.1:n.*2798A>T
ENST00000298139.5:c.3184A>T	ENSP00000298139.5:p.Ile1062Phe
ENST00000521620.5:n.1817A>T
NM_000553.4:c.3184A>T , LRG_524t1:c.3184A>T	NP_000544.2:p.Ile1062Phe
XM_011544639.1:c.3103A>T	XP_011542941.1:p.Ile1035Phe
XM_011544640.1:c.1585A>T	XP_011542942.1:p.Ile529Phe
XR_949470.1:n.3457A>T
XR_949471.1:n.3457A>T
XR_949472.1:n.3457A>T
NM_000553.5:c.3184A>T	NP_000544.2:p.Ile1062Phe
XM_011544639.3:c.3103A>T	XP_011542941.1:p.Ile1035Phe
XM_024447265.1:c.2974A>T	XP_024303033.1:p.Ile992Phe
XR_949470.3:n.3485A>T
XR_949471.3:n.3485A>T
XR_949472.3:n.3485A>T
NM_000553.6:c.3184A>T MANE Select	NP_000544.2:p.Ile1062Phe