Canonical Allele Identifier: CA7280574

Gene: IFT43

Linked Data

• ClinVar Variation Id: 314466
• ClinVar RCV Id: RCV000925972 ; RCV003940221
• dbSNP Id: rs193921095
• ExAC: 14:76452150 G / A
• gnomAD v2: 14-76452150-G-A
• gnomAD v3: 14-75985807-G-A
• gnomAD v4: 14-75985807-G-A
• MyVariant Identifiers: chr14:g.76452150G>A (hg19) ; chr14:g.75985807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75985807G>A , CM000676.2:g.75985807G>A	GRCh38
NC_000014.8:g.76452150G>A , CM000676.1:g.76452150G>A	GRCh37
NC_000014.7:g.75521903G>A	NCBI36
NG_011715.1:g.943C>T , LRG_399:g.943C>T
NG_031957.1:g.5055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.21G>A MANE Select	ENSP00000324177.6:p.Leu7=
ENST00000679083.1:c.-226G>A	ENSP00000504736.1:n.-226G>A
ENST00000238628.10:c.21G>A	ENSP00000238628.6:p.Leu7=
ENST00000314067.10:c.21G>A	ENSP00000324177.6:p.Leu7=
ENST00000542766.5:c.21G>A	ENSP00000440064.1:p.Leu7=
ENST00000553338.1:n.14G>A
ENST00000554026.5:n.28G>A
ENST00000555305.5:n.28G>A
ENST00000555370.5:c.21G>A	ENSP00000452051.1:p.Leu7=
ENST00000555677.5:n.90-3078G>A
ENST00000556742.1:c.21G>A	ENSP00000451096.1:p.Leu7=
NM_001102564.1:c.21G>A	NP_001096034.1:p.Leu7=
NM_001255995.1:c.21G>A	NP_001242924.1:p.Leu7=
NM_052873.2:c.21G>A	NP_443105.2:p.Leu7=
NR_045664.1:n.55G>A
NR_045665.1:n.55G>A
NM_001102564.2:c.21G>A	NP_001096034.1:p.Leu7=
NM_001255995.2:c.21G>A	NP_001242924.1:p.Leu7=
NM_052873.3:c.21G>A	NP_443105.2:p.Leu7=
NM_001102564.3:c.21G>A MANE Select	NP_001096034.1:p.Leu7=
NM_001255995.3:c.21G>A	NP_001242924.1:p.Leu7=
NR_045664.2:n.45G>A
NR_045665.2:n.45G>A