Canonical Allele Identifier: CA370922613

Gene: WRN

Linked Data

• gnomAD v4: 8-31141592-A-G
• MyVariant Identifiers: chr8:g.30999108A>G (hg19) ; chr8:g.31141592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141592A>G , CM000670.2:g.31141592A>G	GRCh38
NC_000008.10:g.30999108A>G , CM000670.1:g.30999108A>G	GRCh37
NC_000008.9:g.31118650A>G	NCBI36
NG_008870.1:g.113331A>G , LRG_524:g.113331A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3130A>G MANE Select	ENSP00000298139.5:p.Thr1044Ala
ENST00000650667.1:c.*2744A>G	ENSP00000498593.1:n.*2744A>G
ENST00000298139.5:c.3130A>G	ENSP00000298139.5:p.Thr1044Ala
ENST00000521620.5:n.1763A>G
NM_000553.4:c.3130A>G , LRG_524t1:c.3130A>G	NP_000544.2:p.Thr1044Ala
XM_011544639.1:c.3049A>G	XP_011542941.1:p.Thr1017Ala
XM_011544640.1:c.1531A>G	XP_011542942.1:p.Thr511Ala
XR_949470.1:n.3403A>G
XR_949471.1:n.3403A>G
XR_949472.1:n.3403A>G
NM_000553.5:c.3130A>G	NP_000544.2:p.Thr1044Ala
XM_011544639.3:c.3049A>G	XP_011542941.1:p.Thr1017Ala
XM_024447265.1:c.2920A>G	XP_024303033.1:p.Thr974Ala
XR_949470.3:n.3431A>G
XR_949471.3:n.3431A>G
XR_949472.3:n.3431A>G
NM_000553.6:c.3130A>G MANE Select	NP_000544.2:p.Thr1044Ala