Canonical Allele Identifier: CA8414104

Gene: TNFRSF13B

Linked Data

• ClinVar Variation Id: 322030
• ClinVar RCV Id: RCV000269924 ; RCV000929772 ; RCV003940267
• dbSNP Id: rs377551435
• ExAC: 17:16855833 A / G
• gnomAD v2: 17-16855833-A-G
• gnomAD v3: 17-16952519-A-G
• gnomAD v4: 17-16952519-A-G
• MyVariant Identifiers: chr17:g.16855833A>G (hg19) ; chr17:g.16952519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16952519A>G , CM000679.2:g.16952519A>G	GRCh38
NC_000017.10:g.16855833A>G , CM000679.1:g.16855833A>G	GRCh37
NC_000017.9:g.16796558A>G	NCBI36
NG_007281.1:g.24570T>C , LRG_120:g.24570T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261652.7:c.126T>C MANE Select	ENSP00000261652.2:p.Pro42=
ENST00000261652.6:c.126T>C	ENSP00000261652.2:p.Pro42=
ENST00000579315.5:c.126T>C	ENSP00000464069.1:p.Pro42=
ENST00000581616.2:n.129T>C
ENST00000582931.5:n.104-3536T>C
ENST00000583789.1:c.62-3536T>C	ENSP00000462952.1:n.62-3536T>C
ENST00000584950.5:c.62-3536T>C	ENSP00000463582.1:n.62-3536T>C
NM_012452.2:c.126T>C , LRG_120t1:c.126T>C	NP_036584.1:p.Pro42=
NM_012452.3:c.126T>C MANE Select	NP_036584.1:p.Pro42=