Canonical Allele Identifier: CA7280842

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76082327C>T , CM000676.2:g.76082327C>T	GRCh38
NC_000014.8:g.76548670C>T , CM000676.1:g.76548670C>T	GRCh37
NC_000014.7:g.75618423C>T	NCBI36
NG_031957.1:g.101575C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001102564.3:c.328C>T MANE Select	NP_001096034.1:p.Gln110Ter
ENST00000314067.11:c.328C>T MANE Select	ENSP00000324177.6:p.Gln110Ter
NM_001102564.1:c.328C>T	NP_001096034.1:p.Gln110Ter
NM_001102564.2:c.328C>T	NP_001096034.1:p.Gln110Ter
NM_052873.2:c.343C>T	NP_443105.2:p.Gln115Ter
NM_052873.3:c.343C>T	NP_443105.2:p.Gln115Ter
NR_045664.1:n.282C>T
NR_045664.2:n.272C>T
NR_045665.1:n.362C>T
NR_045665.2:n.352C>T
ENST00000238628.10:c.343C>T	ENSP00000238628.6:p.Gln115Ter
ENST00000314067.10:c.328C>T	ENSP00000324177.6:p.Gln110Ter
ENST00000542766.5:c.328C>T	ENSP00000440064.1:p.Gln110Ter
ENST00000553438.1:n.174C>T
ENST00000554026.5:n.430C>T
ENST00000555305.5:n.335C>T
ENST00000679083.1:c.265C>T	ENSP00000504736.1:p.Gln89Ter