Canonical Allele Identifier: CA10102735

Gene: TBX1

Linked Data

• dbSNP Id: rs771471094
• ExAC: 22:19754264 C / T
• gnomAD v2: 22-19754264-C-T
• gnomAD v4: 22-19766741-C-T
• MyVariant Identifiers: chr22:g.19754264C>T (hg19) ; chr22:g.19766741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19766741C>T , CM000684.2:g.19766741C>T	GRCh38
NC_000022.10:g.19754264C>T , CM000684.1:g.19754264C>T	GRCh37
NC_000022.9:g.18134264C>T	NCBI36
NG_009229.1:g.15039C>T , LRG_226:g.15039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649276.2:c.1389C>T MANE Select	ENSP00000497003.1:p.His463=
ENST00000329705.11:c.1009+739C>T	ENSP00000331176.7:n.1009+739C>T
ENST00000332710.8:c.1362C>T	ENSP00000331791.4:p.His454=
ENST00000359500.7:c.1009+739C>T	ENSP00000352483.3:n.1009+739C>T
ENST00000621939.1:c.1009+739C>T	ENSP00000477982.1:n.1009+739C>T
NM_005992.1:c.1009+739C>T	NP_005983.1:n.1009+739C>T
NM_080646.1:c.1009+739C>T	NP_542377.1:n.1009+739C>T
NM_080647.1:c.1362C>T , LRG_226t1:c.1362C>T	NP_542378.1:p.His454=
XM_006724312.1:c.1362C>T	XP_006724375.1:p.His454=
XM_011530351.1:c.1389C>T	XP_011528653.1:p.His463=
XM_006724312.2:c.1362C>T	XP_006724375.1:p.His454=
XM_017028925.1:c.1512C>T	XP_016884414.1:p.His504=
XM_017028926.1:c.1362C>T	XP_016884415.1:p.His454=
XM_017028927.1:c.717C>T	XP_016884416.1:p.His239=
XM_017028928.1:c.1159+739C>T	XP_016884417.1:n.1159+739C>T
NM_001379200.1:c.1389C>T MANE Select	NP_001366129.1:p.His463=
NM_080646.2:c.1009+739C>T	NP_542377.1:n.1009+739C>T