Canonical Allele Identifier: CA390472784

Gene: IFT43

Linked Data

• ClinVar Variation Id: 1452113
• ClinVar RCV Id: RCV002007558
• dbSNP Id: rs387907107
• gnomAD v3: 14-75985787-A-C
• gnomAD v4: 14-75985787-A-C
• MyVariant Identifiers: chr14:g.76452130A>C (hg19) ; chr14:g.75985787A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75985787A>C , CM000676.2:g.75985787A>C	GRCh38
NC_000014.8:g.76452130A>C , CM000676.1:g.76452130A>C	GRCh37
NC_000014.7:g.75521883A>C	NCBI36
NG_011715.1:g.963T>G , LRG_399:g.963T>G
NG_031957.1:g.5035A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.1A>C MANE Select	ENSP00000324177.6:p.Met1Leu
ENST00000679083.1:c.-246A>C	ENSP00000504736.1:n.-246A>C
ENST00000238628.10:c.1A>C	ENSP00000238628.6:p.Met1Leu
ENST00000314067.10:c.1A>C	ENSP00000324177.6:p.Met1Leu
ENST00000542766.5:c.1A>C	ENSP00000440064.1:p.Met1Leu
ENST00000554026.5:n.8A>C
ENST00000555305.5:n.8A>C
ENST00000555370.5:c.1A>C	ENSP00000452051.1:p.Met1Leu
ENST00000555677.5:n.90-3098A>C
ENST00000556742.1:c.1A>C	ENSP00000451096.1:p.Met1Leu
NM_001102564.1:c.1A>C	NP_001096034.1:p.Met1Leu
NM_001255995.1:c.1A>C	NP_001242924.1:p.Met1Leu
NM_052873.2:c.1A>C	NP_443105.2:p.Met1Leu
NR_045664.1:n.35A>C
NR_045665.1:n.35A>C
NM_001102564.2:c.1A>C	NP_001096034.1:p.Met1Leu
NM_001255995.2:c.1A>C	NP_001242924.1:p.Met1Leu
NM_052873.3:c.1A>C	NP_443105.2:p.Met1Leu
NM_001102564.3:c.1A>C MANE Select	NP_001096034.1:p.Met1Leu
NM_001255995.3:c.1A>C	NP_001242924.1:p.Met1Leu
NR_045664.2:n.25A>C
NR_045665.2:n.25A>C