Canonical Allele Identifier: CA10641177

Gene: TSHR

Linked Data

• ClinVar Variation Id: 314694
• ClinVar RCV Id: RCV000260249 ; RCV000299176
• dbSNP Id: rs886050854
• gnomAD v3: 14-81108369-C-G
• gnomAD v4: 14-81108369-C-G
• MyVariant Identifiers: chr14:g.81574713C>G (hg19) ; chr14:g.81108369C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81108369C>G , CM000676.2:g.81108369C>G	GRCh38
NC_000014.8:g.81574713C>G , CM000676.1:g.81574713C>G	GRCh37
NC_000014.7:g.80644466C>G	NCBI36
NG_009206.1:g.157845C>G , LRG_523:g.157845C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.615-6C>G MANE Select	ENSP00000298171.2:n.615-6C>G
ENST00000636454.1:n.533-6C>G
ENST00000298171.6:c.615-6C>G	ENSP00000298171.2:n.615-6C>G
ENST00000342443.10:c.615-6C>G	ENSP00000340113.6:n.615-6C>G
ENST00000541158.6:c.615-6C>G	ENSP00000441235.2:n.615-6C>G
ENST00000554263.5:c.615-6C>G	ENSP00000451202.1:n.615-6C>G
ENST00000554435.1:c.615-6C>G	ENSP00000450549.1:n.615-6C>G
ENST00000556031.1:n.21C>G
NM_000369.2:c.615-6C>G , LRG_523t1:c.615-6C>G	NP_000360.2:n.615-6C>G
NM_001018036.2:c.615-6C>G	NP_001018046.1:n.615-6C>G
NM_001142626.2:c.615-6C>G	NP_001136098.1:n.615-6C>G
XM_005268037.3:c.615-6C>G	XP_005268094.1:n.615-6C>G
XM_005268039.1:c.615-6C>G	XP_005268096.1:n.615-6C>G
XM_006720245.1:c.615-6C>G	XP_006720308.1:n.615-6C>G
XM_011537119.1:c.336-6C>G	XP_011535421.1:n.336-6C>G
XR_245790.3:n.2087-8843G>C
XR_429385.2:n.854-1189G>C
XR_429386.2:n.855-1231G>C
XR_944075.1:n.866-8843G>C
XR_944076.1:n.862-8843G>C
XR_944077.1:n.866-8843G>C
XR_944078.1:n.866-8843G>C
XR_944079.1:n.856-1189G>C
XM_005268037.4:c.615-6C>G	XP_005268094.1:n.615-6C>G
XM_011537119.2:c.336-6C>G	XP_011535421.1:n.336-6C>G
XR_001751021.1:n.2754-8843G>C
XR_001751022.1:n.2754-8843G>C
XR_001751023.1:n.2754-8843G>C
XR_944075.3:n.930-8843G>C
NM_000369.4:c.615-6C>G	NP_000360.2:n.615-6C>G
NM_001018036.3:c.615-6C>G	NP_001018046.1:n.615-6C>G
NM_001142626.3:c.615-6C>G	NP_001136098.1:n.615-6C>G
NM_000369.5:c.615-6C>G MANE Select	NP_000360.2:n.615-6C>G