Canonical Allele Identifier: CA4705300

Gene: WRN

Linked Data

• ClinVar Variation Id: 957603
• ClinVar RCV Id: RCV001230605
• dbSNP Id: rs764468799
• ExAC: 8:31030542 C / T
• gnomAD v2: 8-31030542-C-T
• gnomAD v3: 8-31173026-C-T
• gnomAD v4: 8-31173026-C-T
• MyVariant Identifiers: chr8:g.31030542C>T (hg19) ; chr8:g.31173026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173026C>T , CM000670.2:g.31173026C>T	GRCh38
NC_000008.10:g.31030542C>T , CM000670.1:g.31030542C>T	GRCh37
NC_000008.9:g.31150084C>T	NCBI36
NG_008870.1:g.144765C>T , LRG_524:g.144765C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4223C>T MANE Select	ENSP00000298139.5:p.Pro1408Leu
ENST00000650667.1:c.*3837C>T	ENSP00000498593.1:n.*3837C>T
ENST00000651946.1:n.447C>T
ENST00000298139.5:c.4223C>T	ENSP00000298139.5:p.Pro1408Leu
ENST00000521620.5:n.2856C>T
NM_000553.4:c.4223C>T , LRG_524t1:c.4223C>T	NP_000544.2:p.Pro1408Leu
XM_011544639.1:c.4142C>T	XP_011542941.1:p.Pro1381Leu
XM_011544640.1:c.2624C>T	XP_011542942.1:p.Pro875Leu
XR_949643.1:n.88-1708G>A
XR_949644.1:n.88-1708G>A
XR_949645.1:n.88-1708G>A
XR_949646.1:n.88-1708G>A
XR_949647.1:n.701-1708G>A
XR_949648.1:n.603-1708G>A
NM_000553.5:c.4223C>T	NP_000544.2:p.Pro1408Leu
XM_011544639.3:c.4142C>T	XP_011542941.1:p.Pro1381Leu
XM_024447265.1:c.4013C>T	XP_024303033.1:p.Pro1338Leu
NM_000553.6:c.4223C>T MANE Select	NP_000544.2:p.Pro1408Leu