Canonical Allele Identifier: CA386869566

Gene: TBX3

Linked Data

• dbSNP Id: rs1242201658
• gnomAD v2: 12-115112558-C-A
• gnomAD v4: 12-114674753-C-A
• MyVariant Identifiers: chr12:g.115112558C>A (hg19) ; chr12:g.114674753C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674753C>A , CM000674.2:g.114674753C>A	GRCh38
NC_000012.11:g.115112558C>A , CM000674.1:g.115112558C>A	GRCh37
NC_000012.10:g.113596941C>A	NCBI36
NG_008315.1:g.14412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1122G>T MANE Select	ENSP00000257567.2:p.Lys374Asn
ENST00000257566.7:c.1182G>T	ENSP00000257566.3:p.Lys394Asn
ENST00000349155.6:c.1122G>T	ENSP00000257567.2:p.Lys374Asn
ENST00000613550.1:c.1122G>T	ENSP00000480048.1:p.Lys374Asn
NM_005996.3:c.1122G>T	NP_005987.3:p.Lys374Asn
NM_016569.3:c.1182G>T	NP_057653.3:p.Lys394Asn
NM_005996.4:c.1122G>T MANE Select	NP_005987.3:p.Lys374Asn
NM_016569.4:c.1182G>T	NP_057653.3:p.Lys394Asn