Canonical Allele Identifier: CA6967125

Gene: TNFSF11

Linked Data

• ClinVar Variation Id: 312229
• ClinVar RCV Id: RCV000338886 ; RCV001520321 ; RCV001805012 ; RCV002278395
• dbSNP Id: rs138818878
• ExAC: 13:43148546 C / G
• gnomAD v2: 13-43148546-C-G
• gnomAD v3: 13-42574410-C-G
• gnomAD v4: 13-42574410-C-G
• MyVariant Identifiers: chr13:g.43148546C>G (hg19) ; chr13:g.42574410C>G (hg38)
• PubMed: PMID:20499338 ; PMID:21541994

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42574410C>G , CM000675.2:g.42574410C>G	GRCh38
NC_000013.10:g.43148546C>G , CM000675.1:g.43148546C>G	GRCh37
NC_000013.9:g.42046546C>G	NCBI36
NG_008990.1:g.16675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398795.7:c.107C>G MANE Select	ENSP00000381775.3:p.Pro36Arg
ENST00000239849.8:c.-5+13C>G	ENSP00000239849.7:n.-5+13C>G
ENST00000358545.6:c.-1+2672C>G	ENSP00000351347.2:n.-1+2672C>G
ENST00000398795.6:c.107C>G	ENSP00000381775.3:p.Pro36Arg
ENST00000405262.6:c.-1+2672C>G	ENSP00000384042.2:n.-1+2672C>G
ENST00000544862.5:c.-54-59C>G	ENSP00000444913.1:n.-54-59C>G
NM_003701.3:c.107C>G	NP_003692.1:p.Pro36Arg
NM_033012.3:c.-1+2672C>G	NP_143026.1:n.-1+2672C>G
NM_003701.4:c.107C>G MANE Select	NP_003692.1:p.Pro36Arg
NM_033012.4:c.-1+2672C>G	NP_143026.1:n.-1+2672C>G