Canonical Allele Identifier: CA3732790

Gene: TNXB

Linked Data

• ClinVar Variation Id: 224352
• ClinVar RCV Id: RCV000416571 ; RCV001564320
• dbSNP Id: rs544604053
• ExAC: 6:32009669 C / T
• gnomAD v2: 6-32009669-C-T
• gnomAD v3: 6-32041892-C-T
• gnomAD v4: 6-32041892-C-T
• MyVariant Identifiers: chr6:g.32009669C>T (hg19) ; chr6:g.32041892C>T (hg38)
• PubMed: PMID:27657687

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041892C>T , CM000668.2:g.32041892C>T	GRCh38
NC_000006.11:g.32009669C>T , CM000668.1:g.32009669C>T	GRCh37
NC_000006.10:g.32117648C>T	NCBI36
NG_007941.2:g.8585C>T
NG_008337.2:g.72483G>A
NG_007941.3:g.8588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644971.2:c.12512G>A MANE Select	ENSP00000496448.1:p.Arg4171His
ENST00000647633.1:c.13253G>A	ENSP00000497649.1:p.Arg4418His
ENST00000375244.7:c.12512G>A	ENSP00000364393.3:p.Arg4171His
ENST00000451343.4:c.1799G>A	ENSP00000407685.1:p.Arg600His
ENST00000490077.5:n.2339G>A
ENST00000611016.2:c.5666G>A	ENSP00000483409.1:p.Arg1889His
NM_019105.6:c.12506G>A	NP_061978.6:p.Arg4169His
NM_032470.3:c.1799G>A	NP_115859.2:p.Arg600His
NM_001365276.1:c.12512G>A	NP_001352205.1:p.Arg4171His
NM_019105.7:c.12506G>A	NP_061978.6:p.Arg4169His
NM_001365276.2:c.12512G>A MANE Select	NP_001352205.1:p.Arg4171His
NM_019105.8:c.12506G>A	NP_061978.6:p.Arg4169His
NM_032470.4:c.1799G>A	NP_115859.2:p.Arg600His