Canonical Allele Identifier: CA7280672

Gene: IFT43

Linked Data

• ClinVar Variation Id: 314469
• ClinVar RCV Id: RCV001516672
• dbSNP Id: rs183769851
• ExAC: 14:76488655 T / C
• gnomAD v2: 14-76488655-T-C
• gnomAD v3: 14-76022312-T-C
• gnomAD v4: 14-76022312-T-C
• MyVariant Identifiers: chr14:g.76488655T>C (hg19) ; chr14:g.76022312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76022312T>C , CM000676.2:g.76022312T>C	GRCh38
NC_000014.8:g.76488655T>C , CM000676.1:g.76488655T>C	GRCh37
NC_000014.7:g.75558408T>C	NCBI36
NG_031957.1:g.41560T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.148-15T>C MANE Select	ENSP00000324177.6:n.148-15T>C
ENST00000679083.1:c.85-15T>C	ENSP00000504736.1:n.85-15T>C
ENST00000238628.10:c.148-15T>C	ENSP00000238628.6:n.148-15T>C
ENST00000314067.10:c.148-15T>C	ENSP00000324177.6:n.148-15T>C
ENST00000542766.5:c.148-15T>C	ENSP00000440064.1:n.148-15T>C
ENST00000553338.1:n.609-15T>C
ENST00000554026.5:n.155-15T>C
ENST00000555305.5:n.155-15T>C
ENST00000555370.5:c.*206-15T>C	ENSP00000452051.1:n.*206-15T>C
ENST00000555677.5:n.183-15T>C
ENST00000556742.1:c.148-15T>C	ENSP00000451096.1:n.148-15T>C
NM_001102564.1:c.148-15T>C	NP_001096034.1:n.148-15T>C
NM_001255995.1:c.148-15T>C	NP_001242924.1:n.148-15T>C
NM_052873.2:c.148-15T>C	NP_443105.2:n.148-15T>C
NR_045664.1:n.182-15T>C
NR_045665.1:n.182-15T>C
NM_001102564.2:c.148-15T>C	NP_001096034.1:n.148-15T>C
NM_001255995.2:c.148-15T>C	NP_001242924.1:n.148-15T>C
NM_052873.3:c.148-15T>C	NP_443105.2:n.148-15T>C
NM_001102564.3:c.148-15T>C MANE Select	NP_001096034.1:n.148-15T>C
NM_001255995.3:c.148-15T>C	NP_001242924.1:n.148-15T>C
NR_045664.2:n.172-15T>C
NR_045665.2:n.172-15T>C