Canonical Allele Identifier: CA460228390

Gene: WRN

Linked Data

• dbSNP Id: rs1407505323
• gnomAD v2: 8-31030540-A-G
• gnomAD v3: 8-31173024-A-G
• gnomAD v4: 8-31173024-A-G
• MyVariant Identifiers: chr8:g.31030540A>G (hg19) ; chr8:g.31173024A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173024A>G , CM000670.2:g.31173024A>G	GRCh38
NC_000008.10:g.31030540A>G , CM000670.1:g.31030540A>G	GRCh37
NC_000008.9:g.31150082A>G	NCBI36
NG_008870.1:g.144763A>G , LRG_524:g.144763A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4221A>G MANE Select	ENSP00000298139.5:p.Leu1407=
ENST00000650667.1:c.*3835A>G	ENSP00000498593.1:n.*3835A>G
ENST00000651946.1:n.445A>G
ENST00000298139.5:c.4221A>G	ENSP00000298139.5:p.Leu1407=
ENST00000521620.5:n.2854A>G
NM_000553.4:c.4221A>G , LRG_524t1:c.4221A>G	NP_000544.2:p.Leu1407=
XM_011544639.1:c.4140A>G	XP_011542941.1:p.Leu1380=
XM_011544640.1:c.2622A>G	XP_011542942.1:p.Leu874=
XR_949643.1:n.88-1706T>C
XR_949644.1:n.88-1706T>C
XR_949645.1:n.88-1706T>C
XR_949646.1:n.88-1706T>C
XR_949647.1:n.701-1706T>C
XR_949648.1:n.603-1706T>C
NM_000553.5:c.4221A>G	NP_000544.2:p.Leu1407=
XM_011544639.3:c.4140A>G	XP_011542941.1:p.Leu1380=
XM_024447265.1:c.4011A>G	XP_024303033.1:p.Leu1337=
NM_000553.6:c.4221A>G MANE Select	NP_000544.2:p.Leu1407=