Canonical Allele Identifier: CA263937101

Gene: TSHR

Linked Data

• ClinVar Variation Id: 887504
• ClinVar RCV Id: RCV001120276 ; RCV001120277
• dbSNP Id: rs140533848
• gnomAD v2: 14-81610946-A-C
• gnomAD v3: 14-81144602-A-C
• gnomAD v4: 14-81144602-A-C
• MyVariant Identifiers: chr14:g.81610946A>C (hg19) ; chr14:g.81144602A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144602A>C , CM000676.2:g.81144602A>C	GRCh38
NC_000014.8:g.81610946A>C , CM000676.1:g.81610946A>C	GRCh37
NC_000014.7:g.80680699A>C	NCBI36
NG_009206.1:g.194078A>C , LRG_523:g.194078A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.*249A>C MANE Select	ENSP00000298171.2:n.*249A>C
ENST00000637447.1:c.1447A>C
ENST00000298171.6:c.*249A>C	ENSP00000298171.2:n.*249A>C
ENST00000541158.6:c.*249A>C	ENSP00000441235.2:n.*249A>C
NM_000369.2:c.*249A>C , LRG_523t1:c.*249A>C	NP_000360.2:n.*249A>C
XM_005268037.3:c.*249A>C	XP_005268094.1:n.*249A>C
XM_011537119.1:c.*249A>C	XP_011535421.1:n.*249A>C
XR_245790.3:n.2086+20591T>G
XR_429385.2:n.853+20591T>G
XR_429386.2:n.854+20591T>G
XR_944075.1:n.865+20591T>G
XR_944076.1:n.861+20591T>G
XR_944077.1:n.865+20591T>G
XR_944078.1:n.865+20591T>G
XR_944079.1:n.855+20591T>G
XM_005268037.4:c.*249A>C	XP_005268094.1:n.*249A>C
XM_011537119.2:c.*249A>C	XP_011535421.1:n.*249A>C
XR_001751021.1:n.2753+20591T>G
XR_001751022.1:n.2753+20591T>G
XR_001751023.1:n.2753+20591T>G
XR_944075.3:n.929+20591T>G
NM_000369.4:c.*249A>C	NP_000360.2:n.*249A>C
NM_000369.5:c.*249A>C MANE Select	NP_000360.2:n.*249A>C