Canonical Allele Identifier: CA9787568

Gene: THBD

Linked Data

• ClinVar Variation Id: 1434632
• ClinVar RCV Id: RCV001984689 ; RCV002507634 ; RCV003136337
• dbSNP Id: rs373741115
• ExAC: 20:23028736 T / C
• gnomAD v2: 20-23028736-T-C
• gnomAD v3: 20-23048099-T-C
• gnomAD v4: 20-23048099-T-C
• MyVariant Identifiers: chr20:g.23028736T>C (hg19) ; chr20:g.23048099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23048099T>C , CM000682.2:g.23048099T>C	GRCh38
NC_000020.10:g.23028736T>C , CM000682.1:g.23028736T>C	GRCh37
NC_000020.9:g.22976736T>C	NCBI36
NG_012027.1:g.6566A>G , LRG_168:g.6566A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000377103.3:c.1406A>G MANE Select	ENSP00000366307.2:p.Asp469Gly
ENST00000377103.2:c.1406A>G	ENSP00000366307.2:p.Asp469Gly
NM_000361.2:c.1406A>G , LRG_168t1:c.1406A>G	NP_000352.1:p.Asp469Gly
NM_000361.3:c.1406A>G MANE Select	NP_000352.1:p.Asp469Gly