Canonical Allele Identifier: CA10643566
Gene: THBD HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23046984T>C
GRCh37 chr20:g.23027621T>C
gnomAD v2:
20:23027621 T / C
gnomAD v3:
20:23046984 T / C
gnomAD v4:
chr20-23046984-T-C
Joint Max Group AF 0.43893481 (SAS)
Genomes Max Group AF 0.43893481 (SAS)
ClinVar RCV:
RCV000332586
ClinVar Variation:
337864
dbSNP:
1042580
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23046984T>C , CM000682.2:g.23046984T>C GRCh38
NC_000020.10:g.23027621T>C , CM000682.1:g.23027621T>C GRCh37
NC_000020.9:g.22975621T>C NCBI36
NG_012027.1:g.7681A>G , LRG_168:g.7681A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*793A>G MANE Select ENSP00000366307.2:n.*793A>G
ENST00000377103.2:c.*793A>G ENSP00000366307.2:n.*793A>G
NM_000361.2:c.*793A>G , LRG_168t1:c.*793A>G NP_000352.1:n.*793A>G
NM_000361.3:c.*793A>G MANE Select NP_000352.1:n.*793A>G
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