Canonical Allele Identifier: CA394203967

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1562118T>C , CM000678.2:g.1562118T>C	GRCh38
NC_000016.9:g.1612119T>C , CM000678.1:g.1612119T>C	GRCh37
NC_000016.8:g.1552120T>C	NCBI36
NG_032783.1:g.54991A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2068-2A>G MANE Select	NP_055529.2:n.2068-2A>G
ENST00000426508.7:c.2068-2A>G MANE Select	ENSP00000406012.2:n.2068-2A>G
NM_014714.3:c.2068-2A>G	NP_055529.2:n.2068-2A>G
ENST00000397417.6:c.*620-2A>G	ENSP00000380562.2:n.*620-2A>G
ENST00000426508.6:c.2068-2A>G	ENSP00000406012.2:n.2068-2A>G
ENST00000439987.6:n.2129-2A>G
ENST00000561954.1:n.115-2A>G
ENST00000565298.5:n.756-2A>G
XM_005255725.3:c.2068-2A>G	XP_005255782.1:n.2068-2A>G
XM_005255725.5:c.2068-2A>G	XP_005255782.1:n.2068-2A>G
XM_005255726.2:c.2068-2A>G	XP_005255783.1:n.2068-2A>G
XM_005255726.4:c.2068-2A>G	XP_005255783.1:n.2068-2A>G
XM_006720989.2:c.2068-2A>G	XP_006721052.1:n.2068-2A>G
XM_006720990.2:c.2068-2A>G	XP_006721053.1:n.2068-2A>G
XM_006720990.3:c.2068-2A>G	XP_006721053.1:n.2068-2A>G
XM_006720991.2:c.2068-2A>G	XP_006721054.1:n.2068-2A>G
XM_006720991.3:c.2068-2A>G	XP_006721054.1:n.2068-2A>G
XM_011522766.1:c.1822-2A>G	XP_011521068.1:n.1822-2A>G
XM_011522766.3:c.1822-2A>G	XP_011521068.1:n.1822-2A>G
XM_011522767.1:c.1093-2A>G	XP_011521069.1:n.1093-2A>G
XM_011522767.2:c.1093-2A>G	XP_011521069.1:n.1093-2A>G
XM_011522768.1:c.2068-2A>G	XP_011521070.1:n.2068-2A>G
XM_011522769.1:c.2068-2A>G	XP_011521071.1:n.2068-2A>G
XM_011522769.3:c.2068-2A>G	XP_011521071.1:n.2068-2A>G
XM_011522771.1:c.2068-2A>G	XP_011521073.1:n.2068-2A>G
XM_011522771.3:c.2068-2A>G	XP_011521073.1:n.2068-2A>G
XM_011522772.1:c.2068-2A>G	XP_011521074.1:n.2068-2A>G
XM_011522772.3:c.2068-2A>G	XP_011521074.1:n.2068-2A>G
XM_017023910.1:c.2068-2A>G	XP_016879399.1:n.2068-2A>G
XM_017023911.1:c.253-2A>G	XP_016879400.1:n.253-2A>G