Canonical Allele Identifier: CA9787562

Gene: THBD

Linked Data

• ClinVar Variation Id: 337883
• ClinVar RCV Id: RCV000302594 ; RCV001516722 ; RCV001643035 ; RCV002294300 ; RCV003969973
• dbSNP Id: rs1042579
• ExAC: 20:23028724 G / A
• gnomAD v2: 20-23028724-G-A
• gnomAD v3: 20-23048087-G-A
• gnomAD v4: 20-23048087-G-A
• MyVariant Identifiers: chr20:g.23028724G>A (hg19) ; chr20:g.23048087G>A (hg38)
• PubMed: PMID:9157575 ; PMID:19625716

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23048087G>A , CM000682.2:g.23048087G>A	GRCh38
NC_000020.10:g.23028724G>A , CM000682.1:g.23028724G>A	GRCh37
NC_000020.9:g.22976724G>A	NCBI36
NG_012027.1:g.6578C>T , LRG_168:g.6578C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377103.3:c.1418C>T MANE Select	ENSP00000366307.2:p.Ala473Val
ENST00000377103.2:c.1418C>T	ENSP00000366307.2:p.Ala473Val
NM_000361.2:c.1418C>T , LRG_168t1:c.1418C>T	NP_000352.1:p.Ala473Val
NM_000361.3:c.1418C>T MANE Select	NP_000352.1:p.Ala473Val