Canonical Allele Identifier: CA14058742

Gene: TSHR

Linked Data

• ClinVar Variation Id: 1239694
• ClinVar RCV Id: RCV001637658
• dbSNP Id: rs2075176
• gnomAD v2: 14-81558806-C-T
• gnomAD v3: 14-81092462-C-T
• gnomAD v4: 14-81092462-C-T
• MyVariant Identifiers: chr14:g.81558806C>T (hg19) ; chr14:g.81092462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092462C>T , CM000676.2:g.81092462C>T	GRCh38
NC_000014.8:g.81558806C>T , CM000676.1:g.81558806C>T	GRCh37
NC_000014.7:g.80628559C>T	NCBI36
NG_009206.1:g.141938C>T , LRG_523:g.141938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.468-69C>T MANE Select	ENSP00000298171.2:n.468-69C>T
ENST00000636454.1:n.386-69C>T
ENST00000298171.6:c.468-69C>T	ENSP00000298171.2:n.468-69C>T
ENST00000342443.10:c.468-69C>T	ENSP00000340113.6:n.468-69C>T
ENST00000541158.6:c.468-69C>T	ENSP00000441235.2:n.468-69C>T
ENST00000554263.5:c.468-69C>T	ENSP00000451202.1:n.468-69C>T
ENST00000554435.1:c.468-69C>T	ENSP00000450549.1:n.468-69C>T
NM_000369.2:c.468-69C>T , LRG_523t1:c.468-69C>T	NP_000360.2:n.468-69C>T
NM_001018036.2:c.468-69C>T	NP_001018046.1:n.468-69C>T
NM_001142626.2:c.468-69C>T	NP_001136098.1:n.468-69C>T
XM_005268037.3:c.468-69C>T	XP_005268094.1:n.468-69C>T
XM_005268039.1:c.468-69C>T	XP_005268096.1:n.468-69C>T
XM_006720245.1:c.468-69C>T	XP_006720308.1:n.468-69C>T
XM_011537119.1:c.189-69C>T	XP_011535421.1:n.189-69C>T
XR_245790.3:n.2480+1120G>A
XR_944075.1:n.1260-55G>A
XR_944076.1:n.1255+1120G>A
XR_944077.1:n.1259+1120G>A
XR_944078.1:n.1259+1120G>A
XM_005268037.4:c.468-69C>T	XP_005268094.1:n.468-69C>T
XM_011537119.2:c.189-69C>T	XP_011535421.1:n.189-69C>T
XR_001751018.2:n.700-55G>A
XR_001751019.2:n.699+1120G>A
XR_001751020.2:n.699+1120G>A
XR_001751021.1:n.3148-55G>A
XR_001751022.1:n.3147+1120G>A
XR_001751023.1:n.3280+1120G>A
XR_001751024.2:n.700-55G>A
XR_944075.3:n.1324-55G>A
NM_000369.4:c.468-69C>T	NP_000360.2:n.468-69C>T
NM_001018036.3:c.468-69C>T	NP_001018046.1:n.468-69C>T
NM_001142626.3:c.468-69C>T	NP_001136098.1:n.468-69C>T
NM_000369.5:c.468-69C>T MANE Select	NP_000360.2:n.468-69C>T