Canonical Allele Identifier: CA3735168

Gene: TNXB

Linked Data

• ClinVar Variation Id: 261136
• ClinVar RCV Id: RCV000246888 ; RCV001838593 ; RCV001838594 ; RCV002278191 ; RCV002450782
• dbSNP Id: rs185819
• ExAC: 6:32050067 T / C
• gnomAD v2: 6-32050067-T-C
• gnomAD v3: 6-32082290-T-C
• gnomAD v4: 6-32082290-T-C
• MyVariant Identifiers: chr6:g.32050067T>C (hg19) ; chr6:g.32082290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32082290T>C , CM000668.2:g.32082290T>C	GRCh38
NC_000006.11:g.32050067T>C , CM000668.1:g.32050067T>C	GRCh37
NC_000006.10:g.32158045T>C	NCBI36
NG_008337.2:g.32085A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644971.2:c.3482A>G MANE Select	ENSP00000496448.1:p.His1161Arg
ENST00000647633.1:c.4223A>G	ENSP00000497649.1:p.His1408Arg
ENST00000375244.7:c.3482A>G	ENSP00000364393.3:p.His1161Arg
ENST00000613214.4:c.3743A>G	ENSP00000480067.1:p.His1248Arg
NM_019105.6:c.3482A>G	NP_061978.6:p.His1161Arg
NM_001365276.1:c.3482A>G	NP_001352205.1:p.His1161Arg
NM_019105.7:c.3482A>G	NP_061978.6:p.His1161Arg
NM_001365276.2:c.3482A>G MANE Select	NP_001352205.1:p.His1161Arg
NM_019105.8:c.3482A>G	NP_061978.6:p.His1161Arg