Canonical Allele Identifier: CA10652994

Gene: THBD

Linked Data

• ClinVar Variation Id: 337871
• ClinVar RCV Id: RCV000380431
• dbSNP Id: rs11696919
• gnomAD v2: 20-23028063-T-C
• gnomAD v3: 20-23047426-T-C
• gnomAD v4: 20-23047426-T-C
• MyVariant Identifiers: chr20:g.23028063T>C (hg19) ; chr20:g.23047426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047426T>C , CM000682.2:g.23047426T>C	GRCh38
NC_000020.10:g.23028063T>C , CM000682.1:g.23028063T>C	GRCh37
NC_000020.9:g.22976063T>C	NCBI36
NG_012027.1:g.7239A>G , LRG_168:g.7239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.*351A>G MANE Select	ENSP00000366307.2:n.*351A>G
ENST00000377103.2:c.*351A>G	ENSP00000366307.2:n.*351A>G
NM_000361.2:c.*351A>G , LRG_168t1:c.*351A>G	NP_000352.1:n.*351A>G
NM_000361.3:c.*351A>G MANE Select	NP_000352.1:n.*351A>G