Canonical Allele Identifier: CA370922518

Gene: WRN

Linked Data

• gnomAD v4: 8-31141580-A-T
• MyVariant Identifiers: chr8:g.30999096A>T (hg19) ; chr8:g.31141580A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141580A>T , CM000670.2:g.31141580A>T	GRCh38
NC_000008.10:g.30999096A>T , CM000670.1:g.30999096A>T	GRCh37
NC_000008.9:g.31118638A>T	NCBI36
NG_008870.1:g.113319A>T , LRG_524:g.113319A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3118A>T MANE Select	ENSP00000298139.5:p.Ile1040Phe
ENST00000650667.1:c.*2732A>T	ENSP00000498593.1:n.*2732A>T
ENST00000298139.5:c.3118A>T	ENSP00000298139.5:p.Ile1040Phe
ENST00000521620.5:n.1751A>T
NM_000553.4:c.3118A>T , LRG_524t1:c.3118A>T	NP_000544.2:p.Ile1040Phe
XM_011544639.1:c.3037A>T	XP_011542941.1:p.Ile1013Phe
XM_011544640.1:c.1519A>T	XP_011542942.1:p.Ile507Phe
XR_949470.1:n.3391A>T
XR_949471.1:n.3391A>T
XR_949472.1:n.3391A>T
NM_000553.5:c.3118A>T	NP_000544.2:p.Ile1040Phe
XM_011544639.3:c.3037A>T	XP_011542941.1:p.Ile1013Phe
XM_024447265.1:c.2908A>T	XP_024303033.1:p.Ile970Phe
XR_949470.3:n.3419A>T
XR_949471.3:n.3419A>T
XR_949472.3:n.3419A>T
NM_000553.6:c.3118A>T MANE Select	NP_000544.2:p.Ile1040Phe