Canonical Allele Identifier: CA7812888

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1518239C>A , CM000678.2:g.1518239C>A	GRCh38
NC_000016.9:g.1568240C>A , CM000678.1:g.1568240C>A	GRCh37
NC_000016.8:g.1508241C>A	NCBI36
NG_032783.1:g.98870G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.4159G>T MANE Select	NP_055529.2:p.Val1387Leu
ENST00000426508.7:c.4159G>T MANE Select	ENSP00000406012.2:p.Val1387Leu
NM_014714.3:c.4159G>T	NP_055529.2:p.Val1387Leu
ENST00000361339.9:c.1741G>T	ENSP00000354895.5:p.Val581Leu
ENST00000397417.6:c.*2597G>T	ENSP00000380562.2:n.*2597G>T
ENST00000426508.6:c.4159G>T	ENSP00000406012.2:p.Val1387Leu
ENST00000565298.5:n.3983G>T
ENST00000568837.1:c.277G>T	ENSP00000458439.1:p.Val93Leu
XM_006720989.2:c.4159G>T	XP_006721052.1:p.Val1387Leu
XM_006720990.2:c.4159G>T	XP_006721053.1:p.Val1387Leu
XM_006720990.3:c.4159G>T	XP_006721053.1:p.Val1387Leu
XM_006720991.2:c.4159G>T	XP_006721054.1:p.Val1387Leu
XM_006720991.3:c.4159G>T	XP_006721054.1:p.Val1387Leu
XM_006720992.2:c.1792G>T	XP_006721055.1:p.Val598Leu
XM_006720992.3:c.1792G>T	XP_006721055.1:p.Val598Leu
XM_011522766.1:c.3913G>T	XP_011521068.1:p.Val1305Leu
XM_011522766.3:c.3913G>T	XP_011521068.1:p.Val1305Leu
XM_011522767.1:c.3184G>T	XP_011521069.1:p.Val1062Leu
XM_011522767.2:c.3184G>T	XP_011521069.1:p.Val1062Leu
XM_017023910.1:c.4159G>T	XP_016879399.1:p.Val1387Leu
XM_017023911.1:c.2344G>T	XP_016879400.1:p.Val782Leu