Canonical Allele Identifier: CA10649413
Gene: THBD HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23045634G>A
GRCh37 chr20:g.23026271G>A
gnomAD v2:
20:23026271 G / A
gnomAD v3:
20:23045634 G / A
gnomAD v4:
chr20-23045634-G-A
Joint Max Group AF 0.01709722 (NFE)
Genomes Max Group AF 0.01709722 (NFE)
ClinVar RCV:
RCV000279336
ClinVar Variation:
337849
dbSNP:
3176126
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23045634G>A , CM000682.2:g.23045634G>A GRCh38
NC_000020.10:g.23026271G>A , CM000682.1:g.23026271G>A GRCh37
NC_000020.9:g.22974271G>A NCBI36
NG_012027.1:g.9031C>T , LRG_168:g.9031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*2143C>T MANE Select ENSP00000366307.2:n.*2143C>T
ENST00000377103.2:c.*2143C>T ENSP00000366307.2:n.*2143C>T
NM_000361.2:c.*2143C>T , LRG_168t1:c.*2143C>T NP_000352.1:n.*2143C>T
NM_000361.3:c.*2143C>T MANE Select NP_000352.1:n.*2143C>T
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