Canonical Allele Identifier: CA370920970

Gene: WRN

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31081176G>C , CM000670.2:g.31081176G>C	GRCh38
NC_000008.10:g.30938692G>C , CM000670.1:g.30938692G>C	GRCh37
NC_000008.9:g.31058234G>C	NCBI36
NG_008870.1:g.52915G>C , LRG_524:g.52915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.1149G>C MANE Select	ENSP00000298139.5:p.Leu383Phe
ENST00000650667.1:c.*763G>C	ENSP00000498593.1:n.*763G>C
ENST00000651642.1:c.444G>C	ENSP00000498779.1:p.Leu148Phe
ENST00000298139.5:c.1149G>C	ENSP00000298139.5:p.Leu383Phe
NM_000553.4:c.1149G>C , LRG_524t1:c.1149G>C	NP_000544.2:p.Leu383Phe
XM_011544639.1:c.1149G>C	XP_011542941.1:p.Leu383Phe
XR_949470.1:n.1422G>C
XR_949471.1:n.1422G>C
XR_949472.1:n.1422G>C
NM_000553.5:c.1149G>C	NP_000544.2:p.Leu383Phe
XM_011544639.3:c.1149G>C	XP_011542941.1:p.Leu383Phe
XM_024447265.1:c.939G>C	XP_024303033.1:p.Leu313Phe
XR_949470.3:n.1450G>C
XR_949471.3:n.1450G>C
XR_949472.3:n.1450G>C
NM_000553.6:c.1149G>C MANE Select	NP_000544.2:p.Leu383Phe