Canonical Allele Identifier: CA7294567

Gene: TSHR

Linked Data

• ClinVar Variation Id: 2975835
• ClinVar RCV Id: RCV004542294 ; RCV003833921
• dbSNP Id: rs775116489
• ExAC: 14:81610448 C / T
• gnomAD v2: 14-81610448-C-T
• gnomAD v3: 14-81144104-C-T
• gnomAD v4: 14-81144104-C-T
• MyVariant Identifiers: chr14:g.81610448C>T (hg19) ; chr14:g.81144104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144104C>T , CM000676.2:g.81144104C>T	GRCh38
NC_000014.8:g.81610448C>T , CM000676.1:g.81610448C>T	GRCh37
NC_000014.7:g.80680201C>T	NCBI36
NG_009206.1:g.193580C>T , LRG_523:g.193580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2046C>T MANE Select	ENSP00000298171.2:p.Thr682=
ENST00000637447.1:c.949C>T
ENST00000298171.6:c.2046C>T	ENSP00000298171.2:p.Thr682=
ENST00000541158.6:c.2046C>T	ENSP00000441235.2:p.Thr682=
NM_000369.2:c.2046C>T , LRG_523t1:c.2046C>T	NP_000360.2:p.Thr682=
XM_005268037.3:c.2046C>T	XP_005268094.1:p.Thr682=
XM_011537119.1:c.1767C>T	XP_011535421.1:p.Thr589=
XR_245790.3:n.2086+21089G>A
XR_429385.2:n.853+21089G>A
XR_429386.2:n.854+21089G>A
XR_944075.1:n.865+21089G>A
XR_944076.1:n.861+21089G>A
XR_944077.1:n.865+21089G>A
XR_944078.1:n.865+21089G>A
XR_944079.1:n.855+21089G>A
XM_005268037.4:c.2046C>T	XP_005268094.1:p.Thr682=
XM_011537119.2:c.1767C>T	XP_011535421.1:p.Thr589=
XR_001751021.1:n.2753+21089G>A
XR_001751022.1:n.2753+21089G>A
XR_001751023.1:n.2753+21089G>A
XR_944075.3:n.929+21089G>A
NM_000369.4:c.2046C>T	NP_000360.2:p.Thr682=
NM_000369.5:c.2046C>T MANE Select	NP_000360.2:p.Thr682=