Canonical Allele Identifier: CA204870
Gene: TBX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 208772
ClinVar RCV Id: RCV002514090
dbSNP Id: rs768465241
ExAC: 16:30100373 C / T
gnomAD v2: 16-30100373-C-T
gnomAD v3: 16-30089052-C-T
gnomAD v4: 16-30089052-C-T
MyVariant Identifiers: chr16:g.30100373C>T (hg19) chr16:g.30089052C>T (hg38)
PubMed: PMID:4073528 PMID:9490412 PMID:12464437 PMID:15214000 PMID:15864811 PMID:16385447 PMID:16505380 PMID:18775957 PMID:20087400 PMID:21331042 PMID:22495309 PMID:22912587 PMID:23335591 PMID:23954021
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30089052C>T , CM000678.2:g.30089052C>T GRCh38
NC_000016.9:g.30100373C>T , CM000678.1:g.30100373C>T GRCh37
NC_000016.8:g.30007874C>T NCBI36
NG_023283.1:g.7833G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395224.7:c.512G>A MANE Select ENSP00000378650.2:p.Arg171His
ENST00000279386.6:c.512G>A ENSP00000279386.2:p.Arg171His
ENST00000395224.6:c.512G>A ENSP00000378650.2:p.Arg171His
ENST00000553607.1:c.512G>A ENSP00000461223.1:p.Arg171His
ENST00000567664.5:c.512G>A ENSP00000460425.1:p.Arg171His
ENST00000627355.2:c.512G>A ENSP00000485762.1:p.Arg171His
NM_004608.3:c.512G>A NP_004599.2:p.Arg171His
XM_005255523.1:c.512G>A XP_005255580.1:p.Arg171His
XM_011545926.1:c.512G>A XP_011544228.1:p.Arg171His
XR_950840.1:n.1256G>A
XM_005255523.2:c.512G>A XP_005255580.1:p.Arg171His
XM_011545926.3:c.512G>A XP_011544228.1:p.Arg171His
XM_017023614.1:c.512G>A XP_016879103.1:p.Arg171His
XR_950840.3:n.1246G>A
NM_004608.4:c.512G>A MANE Select NP_004599.2:p.Arg171His
Search 100 bp 5'
Search 100 bp 3'