Canonical Allele Identifier: CA7812955

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519912C>T , CM000678.2:g.1519912C>T	GRCh38
NC_000016.9:g.1569913C>T , CM000678.1:g.1569913C>T	GRCh37
NC_000016.8:g.1509914C>T	NCBI36
NG_032783.1:g.97197G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.4009G>A MANE Select	NP_055529.2:p.Ala1337Thr
ENST00000426508.7:c.4009G>A MANE Select	ENSP00000406012.2:p.Ala1337Thr
NM_014714.3:c.4009G>A	NP_055529.2:p.Ala1337Thr
ENST00000361339.9:c.1591G>A	ENSP00000354895.5:p.Ala531Thr
ENST00000397417.6:c.*2447G>A	ENSP00000380562.2:n.*2447G>A
ENST00000426508.6:c.4009G>A	ENSP00000406012.2:p.Ala1337Thr
ENST00000565298.5:n.3833G>A
ENST00000568837.1:c.127G>A	ENSP00000458439.1:p.Ala43Thr
XM_006720989.2:c.4009G>A	XP_006721052.1:p.Ala1337Thr
XM_006720990.2:c.4009G>A	XP_006721053.1:p.Ala1337Thr
XM_006720990.3:c.4009G>A	XP_006721053.1:p.Ala1337Thr
XM_006720991.2:c.4009G>A	XP_006721054.1:p.Ala1337Thr
XM_006720991.3:c.4009G>A	XP_006721054.1:p.Ala1337Thr
XM_006720992.2:c.1642G>A	XP_006721055.1:p.Ala548Thr
XM_006720992.3:c.1642G>A	XP_006721055.1:p.Ala548Thr
XM_011522766.1:c.3763G>A	XP_011521068.1:p.Ala1255Thr
XM_011522766.3:c.3763G>A	XP_011521068.1:p.Ala1255Thr
XM_011522767.1:c.3034G>A	XP_011521069.1:p.Ala1012Thr
XM_011522767.2:c.3034G>A	XP_011521069.1:p.Ala1012Thr
XM_017023910.1:c.4009G>A	XP_016879399.1:p.Ala1337Thr
XM_017023911.1:c.2194G>A	XP_016879400.1:p.Ala732Thr