Canonical Allele Identifier: CA394222175

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1560947A>T (hg19) ; chr16:g.1510946A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510946A>T , CM000678.2:g.1510946A>T	GRCh38
NC_000016.9:g.1560947A>T , CM000678.1:g.1560947A>T	GRCh37
NC_000016.8:g.1500948A>T	NCBI36
NG_032783.1:g.106163T>A
NG_050910.1:g.22603A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4387T>A MANE Select	ENSP00000406012.2:p.Ter1463Arg
ENST00000361339.9:c.1969T>A	ENSP00000354895.5:p.Ter657Arg
ENST00000397417.6:c.*2825T>A	ENSP00000380562.2:n.*2825T>A
ENST00000426508.6:c.4387T>A	ENSP00000406012.2:p.Ter1463Arg
ENST00000565298.5:n.4211T>A
NM_014714.3:c.4387T>A	NP_055529.2:p.Ter1463Arg
XM_006720989.2:c.4387T>A	XP_006721052.1:p.Ter1463Arg
XM_006720990.2:c.4387T>A	XP_006721053.1:p.Ter1463Arg
XM_006720991.2:c.4387T>A	XP_006721054.1:p.Ter1463Arg
XM_006720992.2:c.2020T>A	XP_006721055.1:p.Ter674Arg
XM_011522766.1:c.4141T>A	XP_011521068.1:p.Ter1381Arg
XM_011522767.1:c.3412T>A	XP_011521069.1:p.Ter1138Arg
XM_006720990.3:c.4387T>A	XP_006721053.1:p.Ter1463Arg
XM_006720991.3:c.4387T>A	XP_006721054.1:p.Ter1463Arg
XM_006720992.3:c.2020T>A	XP_006721055.1:p.Ter674Arg
XM_011522766.3:c.4141T>A	XP_011521068.1:p.Ter1381Arg
XM_011522767.2:c.3412T>A	XP_011521069.1:p.Ter1138Arg
XM_017023910.1:c.4387T>A	XP_016879399.1:p.Ter1463Arg
XM_017023911.1:c.2572T>A	XP_016879400.1:p.Ter858Arg
NM_014714.4:c.4387T>A MANE Select	NP_055529.2:p.Ter1463Arg