Canonical Allele Identifier: CA9787508

Gene: THBD

Linked Data

• ClinVar Variation Id: 899344
• ClinVar RCV Id: RCV001143807 ; RCV002482272 ; RCV002559387 ; RCV003546650
• dbSNP Id: rs368774068
• ExAC: 20:23028442 C / T
• gnomAD v2: 20-23028442-C-T
• gnomAD v3: 20-23047805-C-T
• gnomAD v4: 20-23047805-C-T
• MyVariant Identifiers: chr20:g.23028442C>T (hg19) ; chr20:g.23047805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047805C>T , CM000682.2:g.23047805C>T	GRCh38
NC_000020.10:g.23028442C>T , CM000682.1:g.23028442C>T	GRCh37
NC_000020.9:g.22976442C>T	NCBI36
NG_012027.1:g.6860G>A , LRG_168:g.6860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1700G>A MANE Select	ENSP00000366307.2:p.Arg567Gln
ENST00000377103.2:c.1700G>A	ENSP00000366307.2:p.Arg567Gln
NM_000361.2:c.1700G>A , LRG_168t1:c.1700G>A	NP_000352.1:p.Arg567Gln
NM_000361.3:c.1700G>A MANE Select	NP_000352.1:p.Arg567Gln