Canonical Allele Identifier: CA492931899

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570714C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520713C>A , CM000678.2:g.1520713C>A	GRCh38
NC_000016.9:g.1570714C>A , CM000678.1:g.1570714C>A	GRCh37
NC_000016.8:g.1510715C>A	NCBI36
NG_032783.1:g.96396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3549G>T MANE Select	ENSP00000406012.2:p.Leu1183=
ENST00000361339.9:c.1131G>T	ENSP00000354895.5:p.Leu377=
ENST00000397417.6:c.*1987G>T	ENSP00000380562.2:n.*1987G>T
ENST00000426508.6:c.3549G>T	ENSP00000406012.2:p.Leu1183=
ENST00000565298.5:n.3373G>T
NM_014714.3:c.3549G>T	NP_055529.2:p.Leu1183=
XM_006720989.2:c.3549G>T	XP_006721052.1:p.Leu1183=
XM_006720990.2:c.3549G>T	XP_006721053.1:p.Leu1183=
XM_006720991.2:c.3549G>T	XP_006721054.1:p.Leu1183=
XM_006720992.2:c.1182G>T	XP_006721055.1:p.Leu394=
XM_011522766.1:c.3303G>T	XP_011521068.1:p.Leu1101=
XM_011522767.1:c.2574G>T	XP_011521069.1:p.Leu858=
XM_006720990.3:c.3549G>T	XP_006721053.1:p.Leu1183=
XM_006720991.3:c.3549G>T	XP_006721054.1:p.Leu1183=
XM_006720992.3:c.1182G>T	XP_006721055.1:p.Leu394=
XM_011522766.3:c.3303G>T	XP_011521068.1:p.Leu1101=
XM_011522767.2:c.2574G>T	XP_011521069.1:p.Leu858=
XM_017023910.1:c.3549G>T	XP_016879399.1:p.Leu1183=
XM_017023911.1:c.1734G>T	XP_016879400.1:p.Leu578=
NM_014714.4:c.3549G>T MANE Select	NP_055529.2:p.Leu1183=