Canonical Allele Identifier: CA7280690

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76022380C>T , CM000676.2:g.76022380C>T	GRCh38
NC_000014.8:g.76488723C>T , CM000676.1:g.76488723C>T	GRCh37
NC_000014.7:g.75558476C>T	NCBI36
NG_031957.1:g.41628C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001102564.3:c.201C>T MANE Select	NP_001096034.1:p.Ser67=
ENST00000314067.11:c.201C>T MANE Select	ENSP00000324177.6:p.Ser67=
NM_001102564.1:c.201C>T	NP_001096034.1:p.Ser67=
NM_001102564.2:c.201C>T	NP_001096034.1:p.Ser67=
NM_001255995.1:c.201C>T	NP_001242924.1:p.Ser67=
NM_001255995.2:c.201C>T	NP_001242924.1:p.Ser67=
NM_001255995.3:c.201C>T	NP_001242924.1:p.Ser67=
NM_052873.2:c.201C>T	NP_443105.2:p.Ser67=
NM_052873.3:c.201C>T	NP_443105.2:p.Ser67=
NR_045664.1:n.235C>T
NR_045664.2:n.225C>T
NR_045665.1:n.235C>T
NR_045665.2:n.225C>T
ENST00000238628.10:c.201C>T	ENSP00000238628.6:p.Ser67=
ENST00000314067.10:c.201C>T	ENSP00000324177.6:p.Ser67=
ENST00000542766.5:c.201C>T	ENSP00000440064.1:p.Ser67=
ENST00000553338.1:n.662C>T
ENST00000553438.1:n.56C>T
ENST00000554026.5:n.208C>T
ENST00000555305.5:n.208C>T
ENST00000555370.5:c.*259C>T	ENSP00000452051.1:n.*259C>T
ENST00000555677.5:n.236C>T
ENST00000556742.1:c.201C>T	ENSP00000451096.1:p.Ser67=
ENST00000679083.1:c.138C>T	ENSP00000504736.1:p.Ser46=