Canonical Allele Identifier: CA8414056

Gene: TNFRSF13B

Linked Data

• ClinVar Variation Id: 1694830
• ClinVar RCV Id: RCV002263080 ; RCV003101483
• dbSNP Id: rs746779126
• ExAC: 17:16852231 C / T
• gnomAD v2: 17-16852231-C-T
• gnomAD v3: 17-16948917-C-T
• gnomAD v4: 17-16948917-C-T
• MyVariant Identifiers: chr17:g.16852231C>T (hg19) ; chr17:g.16852231_16852251delinsTAGCTGATGCAGTCCCTCAGG (hg19) ; chr17:g.16948917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16948917C>T , CM000679.2:g.16948917C>T	GRCh38
NC_000017.10:g.16852231C>T , CM000679.1:g.16852231C>T	GRCh37
NC_000017.9:g.16792956C>T	NCBI36
NG_007281.1:g.28172G>A , LRG_120:g.28172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261652.7:c.266G>A MANE Select	ENSP00000261652.2:p.Cys89Tyr
ENST00000261652.6:c.266G>A	ENSP00000261652.2:p.Cys89Tyr
ENST00000579315.5:c.266G>A	ENSP00000464069.1:p.Cys89Tyr
ENST00000581616.2:n.269G>A
ENST00000582931.5:n.170G>A
ENST00000583789.1:c.128G>A	ENSP00000462952.1:p.Cys43Tyr
ENST00000584950.5:c.128G>A	ENSP00000463582.1:p.Cys43Tyr
NM_012452.2:c.266G>A , LRG_120t1:c.266G>A	NP_036584.1:p.Cys89Tyr
NM_012452.3:c.266G>A MANE Select	NP_036584.1:p.Cys89Tyr