Canonical Allele Identifier: CA10649419
Gene: THBD HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23046776T>G
GRCh37 chr20:g.23027413T>G
gnomAD v2:
20:23027413 T / G
gnomAD v3:
20:23046776 T / G
gnomAD v4:
chr20-23046776-T-G
Joint Max Group AF 0.29224233 (EAS)
Genomes Max Group AF 0.29224233 (EAS)
ClinVar RCV:
RCV000367420
ClinVar Variation:
337862
dbSNP:
3176123
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23046776T>G , CM000682.2:g.23046776T>G GRCh38
NC_000020.10:g.23027413T>G , CM000682.1:g.23027413T>G GRCh37
NC_000020.9:g.22975413T>G NCBI36
NG_012027.1:g.7889A>C , LRG_168:g.7889A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*1001A>C MANE Select ENSP00000366307.2:n.*1001A>C
ENST00000377103.2:c.*1001A>C ENSP00000366307.2:n.*1001A>C
NM_000361.2:c.*1001A>C , LRG_168t1:c.*1001A>C NP_000352.1:n.*1001A>C
NM_000361.3:c.*1001A>C MANE Select NP_000352.1:n.*1001A>C
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