Canonical Allele Identifier: CA7813273

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523950C>T , CM000678.2:g.1523950C>T	GRCh38
NC_000016.9:g.1573951C>T , CM000678.1:g.1573951C>T	GRCh37
NC_000016.8:g.1513952C>T	NCBI36
NG_032783.1:g.93159G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.3148G>A MANE Select	NP_055529.2:p.Gly1050Ser
ENST00000426508.7:c.3148G>A MANE Select	ENSP00000406012.2:p.Gly1050Ser
NM_014714.3:c.3148G>A	NP_055529.2:p.Gly1050Ser
ENST00000361339.9:c.730G>A	ENSP00000354895.5:p.Gly244Ser
ENST00000397417.6:c.*1586G>A	ENSP00000380562.2:n.*1586G>A
ENST00000426508.6:c.3148G>A	ENSP00000406012.2:p.Gly1050Ser
ENST00000565298.5:n.2972G>A
XM_006720989.2:c.3148G>A	XP_006721052.1:p.Gly1050Ser
XM_006720990.2:c.3148G>A	XP_006721053.1:p.Gly1050Ser
XM_006720990.3:c.3148G>A	XP_006721053.1:p.Gly1050Ser
XM_006720991.2:c.3148G>A	XP_006721054.1:p.Gly1050Ser
XM_006720991.3:c.3148G>A	XP_006721054.1:p.Gly1050Ser
XM_006720992.2:c.781G>A	XP_006721055.1:p.Gly261Ser
XM_006720992.3:c.781G>A	XP_006721055.1:p.Gly261Ser
XM_011522766.1:c.2902G>A	XP_011521068.1:p.Gly968Ser
XM_011522766.3:c.2902G>A	XP_011521068.1:p.Gly968Ser
XM_011522767.1:c.2173G>A	XP_011521069.1:p.Gly725Ser
XM_011522767.2:c.2173G>A	XP_011521069.1:p.Gly725Ser
XM_017023910.1:c.3148G>A	XP_016879399.1:p.Gly1050Ser
XM_017023911.1:c.1333G>A	XP_016879400.1:p.Gly445Ser