Canonical Allele Identifier: CA460228389

Gene: WRN

Linked Data

• ClinVar Variation Id: 1152818
• ClinVar RCV Id: RCV001494272
• dbSNP Id: rs2130530116
• MyVariant Identifiers: chr8:g.31030538T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173022T>C , CM000670.2:g.31173022T>C	GRCh38
NC_000008.10:g.31030538T>C , CM000670.1:g.31030538T>C	GRCh37
NC_000008.9:g.31150080T>C	NCBI36
NG_008870.1:g.144761T>C , LRG_524:g.144761T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4219T>C MANE Select	ENSP00000298139.5:p.Leu1407=
ENST00000650667.1:c.*3833T>C	ENSP00000498593.1:n.*3833T>C
ENST00000651946.1:n.443T>C
ENST00000298139.5:c.4219T>C	ENSP00000298139.5:p.Leu1407=
ENST00000521620.5:n.2852T>C
NM_000553.4:c.4219T>C , LRG_524t1:c.4219T>C	NP_000544.2:p.Leu1407=
XM_011544639.1:c.4138T>C	XP_011542941.1:p.Leu1380=
XM_011544640.1:c.2620T>C	XP_011542942.1:p.Leu874=
XR_949643.1:n.88-1704A>G
XR_949644.1:n.88-1704A>G
XR_949645.1:n.88-1704A>G
XR_949646.1:n.88-1704A>G
XR_949647.1:n.701-1704A>G
XR_949648.1:n.603-1704A>G
NM_000553.5:c.4219T>C	NP_000544.2:p.Leu1407=
XM_011544639.3:c.4138T>C	XP_011542941.1:p.Leu1380=
XM_024447265.1:c.4009T>C	XP_024303033.1:p.Leu1337=
NM_000553.6:c.4219T>C MANE Select	NP_000544.2:p.Leu1407=