Canonical Allele Identifier: CA410684984

Gene: TBX1

Linked Data

• ClinVar Variation Id: 1445550
• ClinVar RCV Id: RCV001985110 ; RCV003303480 ; RCV003136356
• dbSNP Id: rs2145838985
• gnomAD v4: 22-19766672-C-G
• MyVariant Identifiers: chr22:g.19754195C>G (hg19) ; chr22:g.19766672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766672C>G , CM000684.2:g.19766672C>G	GRCh38
NC_000022.10:g.19754195C>G , CM000684.1:g.19754195C>G	GRCh37
NC_000022.9:g.18134195C>G	NCBI36
NG_009229.1:g.14970C>G , LRG_226:g.14970C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649276.2:c.1320C>G MANE Select	ENSP00000497003.1:p.Ser440Arg
ENST00000329705.11:c.1009+670C>G	ENSP00000331176.7:n.1009+670C>G
ENST00000332710.8:c.1293C>G	ENSP00000331791.4:p.Ser431Arg
ENST00000359500.7:c.1009+670C>G	ENSP00000352483.3:n.1009+670C>G
ENST00000621939.1:c.1009+670C>G	ENSP00000477982.1:n.1009+670C>G
NM_005992.1:c.1009+670C>G	NP_005983.1:n.1009+670C>G
NM_080646.1:c.1009+670C>G	NP_542377.1:n.1009+670C>G
NM_080647.1:c.1293C>G , LRG_226t1:c.1293C>G	NP_542378.1:p.Ser431Arg
XM_006724312.1:c.1293C>G	XP_006724375.1:p.Ser431Arg
XM_011530351.1:c.1320C>G	XP_011528653.1:p.Ser440Arg
XM_006724312.2:c.1293C>G	XP_006724375.1:p.Ser431Arg
XM_017028925.1:c.1443C>G	XP_016884414.1:p.Ser481Arg
XM_017028926.1:c.1293C>G	XP_016884415.1:p.Ser431Arg
XM_017028927.1:c.648C>G	XP_016884416.1:p.Ser216Arg
XM_017028928.1:c.1159+670C>G	XP_016884417.1:n.1159+670C>G
NM_001379200.1:c.1320C>G MANE Select	NP_001366129.1:p.Ser440Arg
NM_080646.2:c.1009+670C>G	NP_542377.1:n.1009+670C>G