Canonical Allele Identifier: CA9787512

Gene: THBD

Linked Data

• ClinVar Variation Id: 1163744
• ClinVar RCV Id: RCV001509058 ; RCV002488311
• dbSNP Id: rs201487514
• ExAC: 20:23028464 C / G
• gnomAD v2: 20-23028464-C-G
• gnomAD v3: 20-23047827-C-G
• gnomAD v4: 20-23047827-C-G
• MyVariant Identifiers: chr20:g.23028464C>G (hg19) ; chr20:g.23047827C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047827C>G , CM000682.2:g.23047827C>G	GRCh38
NC_000020.10:g.23028464C>G , CM000682.1:g.23028464C>G	GRCh37
NC_000020.9:g.22976464C>G	NCBI36
NG_012027.1:g.6838G>C , LRG_168:g.6838G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1678G>C MANE Select	ENSP00000366307.2:p.Glu560Gln
ENST00000377103.2:c.1678G>C	ENSP00000366307.2:p.Glu560Gln
NM_000361.2:c.1678G>C , LRG_168t1:c.1678G>C	NP_000352.1:p.Glu560Gln
NM_000361.3:c.1678G>C MANE Select	NP_000352.1:p.Glu560Gln