Canonical Allele Identifier: CA10646224

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 314459
• ClinVar RCV Id: RCV000270390 ; RCV002487390
• dbSNP Id: rs71451199
• gnomAD v2: 14-76447771-TA-T
• gnomAD v3: 14-75981428-TA-T
• gnomAD v4: 14-75981428-TA-T
• MyVariant Identifiers: chr14:g.76447772del (hg19) ; chr14:g.75981429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75981439del , CM000676.2:g.75981439del	GRCh38
NC_000014.8:g.76447782del , CM000676.1:g.76447782del	GRCh37
NC_000014.7:g.75517535del	NCBI36
NG_011715.1:g.5321del , LRG_399:g.5321del
NG_031957.1:g.687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.-536del (TGFB3) MANE Select	ENSP00000238682.3:n.-536del
ENST00000556674.2:c.-536del (TGFB3)	ENSP00000502685.1:n.-536del
ENST00000555193.1:n.45-349del (TGFB3)
ENST00000555677.5:n.90-7446del (IFT43)
ENST00000556674.1:n.530del (TGFB3)
NM_003239.3:c.-536del (TGFB3)	NP_003230.1:n.-536del
XM_005268028.1:c.-536del (TGFB3)	XP_005268085.1:n.-536del
NM_001329938.1:c.-536del (TGFB3)	NP_001316867.1:n.-536del
NM_001329939.1:c.-536del (TGFB3)	NP_001316868.1:n.-536del
NM_003239.4:c.-536del (TGFB3)	NP_003230.1:n.-536del
NM_001329938.2:c.-536del (TGFB3)	NP_001316867.1:n.-536del
NM_001329939.2:c.-536del (TGFB3)	NP_001316868.1:n.-536del
NM_003239.5:c.-536del (TGFB3) MANE Select	NP_003230.1:n.-536del