Canonical Allele Identifier: CA370911893

Gene: WRN

Linked Data

• gnomAD v4: 8-31173082-A-T
• MyVariant Identifiers: chr8:g.31030598A>T (hg19) ; chr8:g.31173082A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173082A>T , CM000670.2:g.31173082A>T	GRCh38
NC_000008.10:g.31030598A>T , CM000670.1:g.31030598A>T	GRCh37
NC_000008.9:g.31150140A>T	NCBI36
NG_008870.1:g.144821A>T , LRG_524:g.144821A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4279A>T MANE Select	ENSP00000298139.5:p.Arg1427Trp
ENST00000650667.1:c.*3893A>T	ENSP00000498593.1:n.*3893A>T
ENST00000651946.1:n.503A>T
ENST00000298139.5:c.4279A>T	ENSP00000298139.5:p.Arg1427Trp
ENST00000521620.5:n.2912A>T
NM_000553.4:c.4279A>T , LRG_524t1:c.4279A>T	NP_000544.2:p.Arg1427Trp
XM_011544639.1:c.4198A>T	XP_011542941.1:p.Arg1400Trp
XM_011544640.1:c.2680A>T	XP_011542942.1:p.Arg894Trp
XR_949643.1:n.88-1764T>A
XR_949644.1:n.88-1764T>A
XR_949645.1:n.88-1764T>A
XR_949646.1:n.88-1764T>A
XR_949647.1:n.701-1764T>A
XR_949648.1:n.603-1764T>A
NM_000553.5:c.4279A>T	NP_000544.2:p.Arg1427Trp
XM_011544639.3:c.4198A>T	XP_011542941.1:p.Arg1400Trp
XM_024447265.1:c.4069A>T	XP_024303033.1:p.Arg1357Trp
NM_000553.6:c.4279A>T MANE Select	NP_000544.2:p.Arg1427Trp