Canonical Allele Identifier: CA2609908

Gene: TRH

Linked Data

• ClinVar Variation Id: 260114
• ClinVar RCV Id: RCV000246814
• dbSNP Id: rs5658
• ExAC: 3:129694681 C / G
• gnomAD v2: 3-129694681-C-G
• gnomAD v3: 3-129975838-C-G
• gnomAD v4: 3-129975838-C-G
• MyVariant Identifiers: chr3:g.129694681C>G (hg19) ; chr3:g.129975838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129975838C>G , CM000665.2:g.129975838C>G	GRCh38
NC_000003.11:g.129694681C>G , CM000665.1:g.129694681C>G	GRCh37
NC_000003.10:g.131177371C>G	NCBI36
NG_027816.1:g.6568C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302649.4:c.22C>G MANE Select	ENSP00000303452.3:p.Leu8Val
ENST00000302649.3:c.22C>G	ENSP00000303452.3:p.Leu8Val
ENST00000507066.1:c.22C>G	ENSP00000426522.1:p.Leu8Val
NM_007117.4:c.22C>G	NP_009048.1:p.Leu8Val
NM_007117.5:c.22C>G MANE Select	NP_009048.1:p.Leu8Val