Canonical Allele Identifier: CA10643557
Gene: THBD HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23045859C>T
GRCh37 chr20:g.23026496C>T
gnomAD v2:
20:23026496 C / T
gnomAD v3:
20:23045859 C / T
gnomAD v4:
chr20-23045859-C-T
Joint Max Group AF 0.81687033 (SAS)
Genomes Max Group AF 0.81687033 (SAS)
Exomes Max Group AF 0.17768 (NFE)
ClinVar RCV:
RCV000280442
ClinVar Variation:
337852
dbSNP:
1962
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23045859C>T , CM000682.2:g.23045859C>T GRCh38
NC_000020.10:g.23026496C>T , CM000682.1:g.23026496C>T GRCh37
NC_000020.9:g.22974496C>T NCBI36
NG_012027.1:g.8806G>A , LRG_168:g.8806G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*1918G>A MANE Select ENSP00000366307.2:n.*1918G>A
ENST00000377103.2:c.*1918G>A ENSP00000366307.2:n.*1918G>A
NM_000361.2:c.*1918G>A , LRG_168t1:c.*1918G>A NP_000352.1:n.*1918G>A
NM_000361.3:c.*1918G>A MANE Select NP_000352.1:n.*1918G>A
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