Canonical Allele Identifier: CA395519511

Gene: TBX6

Linked Data

• ClinVar Variation Id: 2762580
• ClinVar RCV Id: RCV003570167
• MyVariant Identifiers: chr16:g.30100295A>T (hg19) ; chr16:g.30088974A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30088974A>T , CM000678.2:g.30088974A>T	GRCh38
NC_000016.9:g.30100295A>T , CM000678.1:g.30100295A>T	GRCh37
NC_000016.8:g.30007796A>T	NCBI36
NG_023283.1:g.7911T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395224.7:c.590T>A MANE Select	ENSP00000378650.2:p.Leu197His
ENST00000279386.6:c.590T>A	ENSP00000279386.2:p.Leu197His
ENST00000395224.6:c.590T>A	ENSP00000378650.2:p.Leu197His
ENST00000553607.1:c.590T>A	ENSP00000461223.1:p.Leu197His
ENST00000567664.5:c.590T>A	ENSP00000460425.1:p.Leu197His
ENST00000627355.2:c.590T>A	ENSP00000485762.1:p.Leu197His
NM_004608.3:c.590T>A	NP_004599.2:p.Leu197His
XM_005255523.1:c.590T>A	XP_005255580.1:p.Leu197His
XM_011545926.1:c.590T>A	XP_011544228.1:p.Leu197His
XR_950840.1:n.1334T>A
XM_005255523.2:c.590T>A	XP_005255580.1:p.Leu197His
XM_011545926.3:c.590T>A	XP_011544228.1:p.Leu197His
XM_017023614.1:c.590T>A	XP_016879103.1:p.Leu197His
XR_950840.3:n.1324T>A
NM_004608.4:c.590T>A MANE Select	NP_004599.2:p.Leu197His