Canonical Allele Identifier: CA7813116

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520700G>A , CM000678.2:g.1520700G>A	GRCh38
NC_000016.9:g.1570701G>A , CM000678.1:g.1570701G>A	GRCh37
NC_000016.8:g.1510702G>A	NCBI36
NG_032783.1:g.96409C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.3562C>T MANE Select	NP_055529.2:p.Arg1188Trp
ENST00000426508.7:c.3562C>T MANE Select	ENSP00000406012.2:p.Arg1188Trp
NM_014714.3:c.3562C>T	NP_055529.2:p.Arg1188Trp
ENST00000361339.9:c.1144C>T	ENSP00000354895.5:p.Arg382Trp
ENST00000397417.6:c.*2000C>T	ENSP00000380562.2:n.*2000C>T
ENST00000426508.6:c.3562C>T	ENSP00000406012.2:p.Arg1188Trp
ENST00000565298.5:n.3386C>T
XM_006720989.2:c.3562C>T	XP_006721052.1:p.Arg1188Trp
XM_006720990.2:c.3562C>T	XP_006721053.1:p.Arg1188Trp
XM_006720990.3:c.3562C>T	XP_006721053.1:p.Arg1188Trp
XM_006720991.2:c.3562C>T	XP_006721054.1:p.Arg1188Trp
XM_006720991.3:c.3562C>T	XP_006721054.1:p.Arg1188Trp
XM_006720992.2:c.1195C>T	XP_006721055.1:p.Arg399Trp
XM_006720992.3:c.1195C>T	XP_006721055.1:p.Arg399Trp
XM_011522766.1:c.3316C>T	XP_011521068.1:p.Arg1106Trp
XM_011522766.3:c.3316C>T	XP_011521068.1:p.Arg1106Trp
XM_011522767.1:c.2587C>T	XP_011521069.1:p.Arg863Trp
XM_011522767.2:c.2587C>T	XP_011521069.1:p.Arg863Trp
XM_017023910.1:c.3562C>T	XP_016879399.1:p.Arg1188Trp
XM_017023911.1:c.1747C>T	XP_016879400.1:p.Arg583Trp