Canonical Allele Identifier: CA4705302

Gene: WRN

Linked Data

• ClinVar Variation Id: 528122
• ClinVar RCV Id: RCV000633206
• dbSNP Id: rs780718250
• ExAC: 8:31030548 G / T
• gnomAD v2: 8-31030548-G-T
• gnomAD v4: 8-31173032-G-T
• MyVariant Identifiers: chr8:g.31030548G>T (hg19) ; chr8:g.31173032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173032G>T , CM000670.2:g.31173032G>T	GRCh38
NC_000008.10:g.31030548G>T , CM000670.1:g.31030548G>T	GRCh37
NC_000008.9:g.31150090G>T	NCBI36
NG_008870.1:g.144771G>T , LRG_524:g.144771G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4229G>T MANE Select	ENSP00000298139.5:p.Trp1410Leu
ENST00000650667.1:c.*3843G>T	ENSP00000498593.1:n.*3843G>T
ENST00000651946.1:n.453G>T
ENST00000298139.5:c.4229G>T	ENSP00000298139.5:p.Trp1410Leu
ENST00000521620.5:n.2862G>T
NM_000553.4:c.4229G>T , LRG_524t1:c.4229G>T	NP_000544.2:p.Trp1410Leu
XM_011544639.1:c.4148G>T	XP_011542941.1:p.Trp1383Leu
XM_011544640.1:c.2630G>T	XP_011542942.1:p.Trp877Leu
XR_949643.1:n.88-1714C>A
XR_949644.1:n.88-1714C>A
XR_949645.1:n.88-1714C>A
XR_949646.1:n.88-1714C>A
XR_949647.1:n.701-1714C>A
XR_949648.1:n.603-1714C>A
NM_000553.5:c.4229G>T	NP_000544.2:p.Trp1410Leu
XM_011544639.3:c.4148G>T	XP_011542941.1:p.Trp1383Leu
XM_024447265.1:c.4019G>T	XP_024303033.1:p.Trp1340Leu
NM_000553.6:c.4229G>T MANE Select	NP_000544.2:p.Trp1410Leu