Canonical Allele Identifier: CA370911931

Gene: WRN

Linked Data

• dbSNP Id: rs2130530600
• MyVariant Identifiers: chr8:g.31030608T>C (hg19) ; chr8:g.31173092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173092T>C , CM000670.2:g.31173092T>C	GRCh38
NC_000008.10:g.31030608T>C , CM000670.1:g.31030608T>C	GRCh37
NC_000008.9:g.31150150T>C	NCBI36
NG_008870.1:g.144831T>C , LRG_524:g.144831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4289T>C MANE Select	ENSP00000298139.5:p.Leu1430Pro
ENST00000650667.1:c.*3903T>C	ENSP00000498593.1:n.*3903T>C
ENST00000651946.1:n.513T>C
ENST00000298139.5:c.4289T>C	ENSP00000298139.5:p.Leu1430Pro
ENST00000521620.5:n.2922T>C
NM_000553.4:c.4289T>C , LRG_524t1:c.4289T>C	NP_000544.2:p.Leu1430Pro
XM_011544639.1:c.4208T>C	XP_011542941.1:p.Leu1403Pro
XM_011544640.1:c.2690T>C	XP_011542942.1:p.Leu897Pro
XR_949643.1:n.88-1774A>G
XR_949644.1:n.88-1774A>G
XR_949645.1:n.88-1774A>G
XR_949646.1:n.88-1774A>G
XR_949647.1:n.701-1774A>G
XR_949648.1:n.603-1774A>G
NM_000553.5:c.4289T>C	NP_000544.2:p.Leu1430Pro
XM_011544639.3:c.4208T>C	XP_011542941.1:p.Leu1403Pro
XM_024447265.1:c.4079T>C	XP_024303033.1:p.Leu1360Pro
NM_000553.6:c.4289T>C MANE Select	NP_000544.2:p.Leu1430Pro