Canonical Allele Identifier: CA7814070

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1564119C>T , CM000678.2:g.1564119C>T	GRCh38
NC_000016.9:g.1614120C>T , CM000678.1:g.1614120C>T	GRCh37
NC_000016.8:g.1554121C>T	NCBI36
NG_032783.1:g.52990G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.1945G>A MANE Select	NP_055529.2:p.Val649Met
ENST00000426508.7:c.1945G>A MANE Select	ENSP00000406012.2:p.Val649Met
NM_014714.3:c.1945G>A	NP_055529.2:p.Val649Met
ENST00000397417.6:c.*497G>A	ENSP00000380562.2:n.*497G>A
ENST00000426508.6:c.1945G>A	ENSP00000406012.2:p.Val649Met
ENST00000439987.6:n.2006G>A
ENST00000565298.5:n.633G>A
XM_005255725.3:c.1945G>A	XP_005255782.1:p.Val649Met
XM_005255725.5:c.1945G>A	XP_005255782.1:p.Val649Met
XM_005255726.2:c.1945G>A	XP_005255783.1:p.Val649Met
XM_005255726.4:c.1945G>A	XP_005255783.1:p.Val649Met
XM_006720989.2:c.1945G>A	XP_006721052.1:p.Val649Met
XM_006720990.2:c.1945G>A	XP_006721053.1:p.Val649Met
XM_006720990.3:c.1945G>A	XP_006721053.1:p.Val649Met
XM_006720991.2:c.1945G>A	XP_006721054.1:p.Val649Met
XM_006720991.3:c.1945G>A	XP_006721054.1:p.Val649Met
XM_011522766.1:c.1699G>A	XP_011521068.1:p.Val567Met
XM_011522766.3:c.1699G>A	XP_011521068.1:p.Val567Met
XM_011522767.1:c.970G>A	XP_011521069.1:p.Val324Met
XM_011522767.2:c.970G>A	XP_011521069.1:p.Val324Met
XM_011522768.1:c.1945G>A	XP_011521070.1:p.Val649Met
XM_011522769.1:c.1945G>A	XP_011521071.1:p.Val649Met
XM_011522769.3:c.1945G>A	XP_011521071.1:p.Val649Met
XM_011522771.1:c.1945G>A	XP_011521073.1:p.Val649Met
XM_011522771.3:c.1945G>A	XP_011521073.1:p.Val649Met
XM_011522772.1:c.1945G>A	XP_011521074.1:p.Val649Met
XM_011522772.3:c.1945G>A	XP_011521074.1:p.Val649Met
XM_017023910.1:c.1945G>A	XP_016879399.1:p.Val649Met
XM_017023911.1:c.130G>A	XP_016879400.1:p.Val44Met