Canonical Allele Identifier: CA394227242

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525930C>G , CM000678.2:g.1525930C>G	GRCh38
NC_000016.9:g.1575931C>G , CM000678.1:g.1575931C>G	GRCh37
NC_000016.8:g.1515932C>G	NCBI36
NG_032783.1:g.91179G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.2725G>C MANE Select	NP_055529.2:p.Gly909Arg
ENST00000426508.7:c.2725G>C MANE Select	ENSP00000406012.2:p.Gly909Arg
NM_014714.3:c.2725G>C	NP_055529.2:p.Gly909Arg
ENST00000361339.9:c.307G>C	ENSP00000354895.5:p.Gly103Arg
ENST00000397417.6:c.*1163G>C	ENSP00000380562.2:n.*1163G>C
ENST00000426508.6:c.2725G>C	ENSP00000406012.2:p.Gly909Arg
ENST00000565298.5:n.1954G>C
ENST00000566818.1:n.440G>C
XM_006720989.2:c.2725G>C	XP_006721052.1:p.Gly909Arg
XM_006720990.2:c.2725G>C	XP_006721053.1:p.Gly909Arg
XM_006720990.3:c.2725G>C	XP_006721053.1:p.Gly909Arg
XM_006720991.2:c.2725G>C	XP_006721054.1:p.Gly909Arg
XM_006720991.3:c.2725G>C	XP_006721054.1:p.Gly909Arg
XM_006720992.2:c.358G>C	XP_006721055.1:p.Gly120Arg
XM_006720992.3:c.358G>C	XP_006721055.1:p.Gly120Arg
XM_011522766.1:c.2479G>C	XP_011521068.1:p.Gly827Arg
XM_011522766.3:c.2479G>C	XP_011521068.1:p.Gly827Arg
XM_011522767.1:c.1750G>C	XP_011521069.1:p.Gly584Arg
XM_011522767.2:c.1750G>C	XP_011521069.1:p.Gly584Arg
XM_017023910.1:c.2725G>C	XP_016879399.1:p.Gly909Arg
XM_017023911.1:c.910G>C	XP_016879400.1:p.Gly304Arg