Canonical Allele Identifier: CA200449

Gene: TNFRSF11A

Linked Data

• ClinVar Variation Id: 193259
• ClinVar RCV Id: RCV000173310 ; RCV000276795 ; RCV000327121 ; RCV001675653
• dbSNP Id: rs1805033
• ExAC: 18:59992577 T / C
• gnomAD v2: 18-59992577-T-C
• gnomAD v3: 18-62325344-T-C
• gnomAD v4: 18-62325344-T-C
• MyVariant Identifiers: chr18:g.59992577T>C (hg19) ; chr18:g.59992577_59992670delinsCCCCGCGCCATGGCCCCGCGCGCCCGGCGGCGCCGCCCGCTGTTCGCGCTGCTGCTGCTCTGCGCGCTGCTCGCCCGGCTGCAGGTAAGGAGCG (hg19) ; chr18:g.62325344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.62325344T>C , CM000680.2:g.62325344T>C	GRCh38
NC_000018.9:g.59992577T>C , CM000680.1:g.59992577T>C	GRCh37
NC_000018.8:g.58143557T>C	NCBI36
NG_008098.1:g.5030T>C , LRG_194:g.5030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586569.3:c.-9T>C MANE Select	ENSP00000465500.1:n.-9T>C
ENST00000639222.1:c.-9T>C	ENSP00000492422.1:n.-9T>C
ENST00000269485.11:c.-9T>C	ENSP00000269485.7:n.-9T>C
ENST00000586569.2:c.-9T>C	ENSP00000465500.1:n.-9T>C
ENST00000592013.1:n.19T>C
ENST00000616710.4:c.-9T>C	ENSP00000479567.1:n.-9T>C
ENST00000617039.4:c.-9T>C	ENSP00000482466.1:n.-9T>C
NM_001270949.1:c.-9T>C	NP_001257878.1:n.-9T>C
NM_001270950.1:c.-9T>C	NP_001257879.1:n.-9T>C
NM_001270951.1:c.-9T>C	NP_001257880.1:n.-9T>C
NM_001278268.1:c.-9T>C	NP_001265197.1:n.-9T>C
NM_003839.3:c.-9T>C	NP_003830.1:n.-9T>C
XM_011526244.1:c.-9T>C	XP_011524546.1:n.-9T>C
XM_011526245.1:c.-201T>C	XP_011524547.1:n.-201T>C
XR_935263.1:n.7T>C
XM_011526244.2:c.-9T>C	XP_011524546.1:n.-9T>C
XM_011526245.2:c.-201T>C	XP_011524547.1:n.-201T>C
NM_003839.4:c.-9T>C MANE Select	NP_003830.1:n.-9T>C
NM_001270951.2:c.-9T>C	NP_001257880.1:n.-9T>C
NM_001278268.2:c.-9T>C	NP_001265197.1:n.-9T>C
NM_001270949.2:c.-9T>C	NP_001257878.1:n.-9T>C
NM_001270950.2:c.-9T>C	NP_001257879.1:n.-9T>C