Canonical Allele Identifier: CA7280914

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76083250C>T , CM000676.2:g.76083250C>T	GRCh38
NC_000014.8:g.76549593C>T , CM000676.1:g.76549593C>T	GRCh37
NC_000014.7:g.75619346C>T	NCBI36
NG_031957.1:g.102498C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001102564.3:c.468C>T MANE Select	NP_001096034.1:p.Leu156=
ENST00000314067.11:c.468C>T MANE Select	ENSP00000324177.6:p.Leu156=
NM_001102564.1:c.468C>T	NP_001096034.1:p.Leu156=
NM_001102564.2:c.468C>T	NP_001096034.1:p.Leu156=
NM_052873.2:c.483C>T	NP_443105.2:p.Leu161=
NM_052873.3:c.483C>T	NP_443105.2:p.Leu161=
NR_045664.1:n.422C>T
NR_045664.2:n.412C>T
NR_045665.1:n.502C>T
NR_045665.2:n.492C>T
ENST00000238628.10:c.483C>T	ENSP00000238628.6:p.Leu161=
ENST00000314067.10:c.468C>T	ENSP00000324177.6:p.Leu156=
ENST00000542766.5:c.468C>T	ENSP00000440064.1:p.Leu156=
ENST00000554026.5:n.819C>T
ENST00000555305.5:n.724C>T
ENST00000679083.1:c.405C>T	ENSP00000504736.1:p.Leu135=