Canonical Allele Identifier: CA2609984

Gene: TRH

Linked Data

• ClinVar Variation Id: 260113
• ClinVar RCV Id: RCV000241645 ; RCV001689861 ; RCV001838583
• dbSNP Id: rs784704
• ExAC: 3:129695538 C / T
• gnomAD v2: 3-129695538-C-T
• gnomAD v3: 3-129976695-C-T
• gnomAD v4: 3-129976695-C-T
• MyVariant Identifiers: chr3:g.129695538C>T (hg19) ; chr3:g.129976695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129976695C>T , CM000665.2:g.129976695C>T	GRCh38
NC_000003.11:g.129695538C>T , CM000665.1:g.129695538C>T	GRCh37
NC_000003.10:g.131178228C>T	NCBI36
NG_027816.1:g.7425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302649.4:c.212-4C>T MANE Select	ENSP00000303452.3:n.212-4C>T
ENST00000302649.3:c.212-4C>T	ENSP00000303452.3:n.212-4C>T
ENST00000507066.1:c.200-4C>T	ENSP00000426522.1:n.200-4C>T
NM_007117.4:c.212-4C>T	NP_009048.1:n.212-4C>T
NM_007117.5:c.212-4C>T MANE Select	NP_009048.1:n.212-4C>T