Canonical Allele Identifier: CA7280250

Gene: TGFB3 IFT43

Linked Data

• ClinVar Variation Id: 520203
• ClinVar RCV Id: RCV002315244 ; RCV002532815
• dbSNP Id: rs753453972
• ExAC: 14:76425584 G / A
• gnomAD v2: 14-76425584-G-A
• gnomAD v4: 14-75959241-G-A
• MyVariant Identifiers: chr14:g.76425584G>A (hg19) ; chr14:g.75959241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75959241G>A , CM000676.2:g.75959241G>A	GRCh38
NC_000014.8:g.76425584G>A , CM000676.1:g.76425584G>A	GRCh37
NC_000014.7:g.75495337G>A	NCBI36
NG_011715.1:g.27509C>T , LRG_399:g.27509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238682.8:c.1185C>T (TGFB3) MANE Select	ENSP00000238682.3:p.Thr395=
ENST00000556674.2:c.1185C>T (TGFB3)	ENSP00000502685.1:p.Thr395=
ENST00000238682.7:c.1185C>T (TGFB3)	ENSP00000238682.3:p.Thr395=
ENST00000554980.5:n.1566C>T (TGFB3)
ENST00000555677.5:n.90-29644G>A (IFT43)
NM_003239.3:c.1185C>T (TGFB3)	NP_003230.1:p.Thr395=
XM_005268028.1:c.1185C>T (TGFB3)	XP_005268085.1:p.Thr395=
NM_001329939.1:c.1185C>T (TGFB3)	NP_001316868.1:p.Thr395=
NM_003239.4:c.1185C>T (TGFB3)	NP_003230.1:p.Thr395=
NM_001329939.2:c.1185C>T (TGFB3)	NP_001316868.1:p.Thr395=
NM_003239.5:c.1185C>T (TGFB3) MANE Select	NP_003230.1:p.Thr395=