Canonical Allele Identifier: CA9787767

Gene: THBD

Linked Data

• ClinVar Variation Id: 809235
• ClinVar RCV Id: RCV000997755 ; RCV002481788
• dbSNP Id: rs1800577
• ExAC: 20:23029906 C / G
• gnomAD v2: 20-23029906-C-G
• gnomAD v3: 20-23049269-C-G
• gnomAD v4: 20-23049269-C-G
• MyVariant Identifiers: chr20:g.23029906C>G (hg19) ; chr20:g.23049269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23049269C>G , CM000682.2:g.23049269C>G	GRCh38
NC_000020.10:g.23029906C>G , CM000682.1:g.23029906C>G	GRCh37
NC_000020.9:g.22977906C>G	NCBI36
NG_012027.1:g.5396G>C , LRG_168:g.5396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.236G>C MANE Select	ENSP00000366307.2:p.Gly79Ala
ENST00000377103.2:c.236G>C	ENSP00000366307.2:p.Gly79Ala
NM_000361.2:c.236G>C , LRG_168t1:c.236G>C	NP_000352.1:p.Gly79Ala
NM_000361.3:c.236G>C MANE Select	NP_000352.1:p.Gly79Ala