Canonical Allele Identifier: CA10102670
Gene: TBX1 HGNC NCBI
ClinVar RCV:
RCV000245695
RCV000598010
RCV000713776
RCV001520751
ClinVar Variation:
263351
COSMIC:
COSM5428525
dbSNP:
72646967
gnomAD v2:
22:19754091 A / C
gnomAD v3:
22:19766568 A / C
gnomAD v4:
chr22-19766568-A-C
Joint Max Group AF 0.46718483 (EAS)
Genomes Max Group AF 0.46835191 (EAS)
Exomes Max Group AF 0.46461408 (EAS)
MyVariant.info:
GRCh38 chr22:g.19766568A>C
GRCh37 chr22:g.19754091A>C
Revel Score:
ENST00000332710 0.222
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19766568A>C , CM000684.2:g.19766568A>C GRCh38
NC_000022.10:g.19754091A>C , CM000684.1:g.19754091A>C GRCh37
NC_000022.9:g.18134091A>C NCBI36
NG_009229.1:g.14866A>C , LRG_226:g.14866A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649276.2:c.1216A>C MANE Select ENSP00000497003.1:p.Asn406His
ENST00000329705.11:c.1009+566A>C ENSP00000331176.7:n.1009+566A>C
ENST00000332710.8:c.1189A>C ENSP00000331791.4:p.Asn397His
ENST00000359500.7:c.1009+566A>C ENSP00000352483.3:n.1009+566A>C
ENST00000621939.1:c.1009+566A>C ENSP00000477982.1:n.1009+566A>C
NM_005992.1:c.1009+566A>C NP_005983.1:n.1009+566A>C
NM_080646.1:c.1009+566A>C NP_542377.1:n.1009+566A>C
NM_080647.1:c.1189A>C , LRG_226t1:c.1189A>C NP_542378.1:p.Asn397His
XM_006724312.1:c.1189A>C XP_006724375.1:p.Asn397His
XM_011530351.1:c.1216A>C XP_011528653.1:p.Asn406His
XM_006724312.2:c.1189A>C XP_006724375.1:p.Asn397His
XM_017028925.1:c.1339A>C XP_016884414.1:p.Asn447His
XM_017028926.1:c.1189A>C XP_016884415.1:p.Asn397His
XM_017028927.1:c.544A>C XP_016884416.1:p.Asn182His
XM_017028928.1:c.1159+566A>C XP_016884417.1:n.1159+566A>C
NM_001379200.1:c.1216A>C MANE Select NP_001366129.1:p.Asn406His
NM_080646.2:c.1009+566A>C NP_542377.1:n.1009+566A>C
Search 100 bp 5'
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