Canonical Allele Identifier: CA4854935
Gene: TNFRSF11B HGNC NCBI

Linked Data

ClinVar Variation Id: 258772
ClinVar RCV Id: RCV000246061 RCV000332969 RCV002058121
dbSNP Id: rs1564858
ExAC: 8:119945166 G / A
gnomAD v2: 8-119945166-G-A
gnomAD v3: 8-118932927-G-A
gnomAD v4: 8-118932927-G-A
MyVariant Identifiers: chr8:g.119945166G>A (hg19) chr8:g.118932927G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118932927G>A , CM000670.2:g.118932927G>A GRCh38
NC_000008.10:g.119945166G>A , CM000670.1:g.119945166G>A GRCh37
NC_000008.9:g.120014347G>A NCBI36
NG_012202.1:g.24218C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297350.9:c.400+4C>T MANE Select ENSP00000297350.4:n.400+4C>T
ENST00000297350.8:c.400+4C>T ENSP00000297350.4:n.400+4C>T
ENST00000517352.1:c.400+4C>T ENSP00000427924.1:n.400+4C>T
NM_002546.3:c.400+4C>T NP_002537.3:n.400+4C>T
NM_002546.4:c.400+4C>T MANE Select NP_002537.3:n.400+4C>T
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