Canonical Allele Identifier: CA635265757
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 899342
ClinVar RCV Id: RCV001143805
dbSNP Id: rs530087674
gnomAD v2: 20-23028387-G-A
gnomAD v3: 20-23047750-G-A
gnomAD v4: 20-23047750-G-A
MyVariant Identifiers: chr20:g.23028387G>A (hg19) chr20:g.23047750G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047750G>A , CM000682.2:g.23047750G>A GRCh38
NC_000020.10:g.23028387G>A , CM000682.1:g.23028387G>A GRCh37
NC_000020.9:g.22976387G>A NCBI36
NG_012027.1:g.6915C>T , LRG_168:g.6915C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*27C>T MANE Select ENSP00000366307.2:n.*27C>T
ENST00000377103.2:c.*27C>T ENSP00000366307.2:n.*27C>T
NM_000361.2:c.*27C>T , LRG_168t1:c.*27C>T NP_000352.1:n.*27C>T
NM_000361.3:c.*27C>T MANE Select NP_000352.1:n.*27C>T
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