Canonical Allele Identifier: CA394222522

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1561117A>T (hg19) ; chr16:g.1511116A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511116A>T , CM000678.2:g.1511116A>T	GRCh38
NC_000016.9:g.1561117A>T , CM000678.1:g.1561117A>T	GRCh37
NC_000016.8:g.1501118A>T	NCBI36
NG_032783.1:g.105993T>A
NG_050910.1:g.22773A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4217T>A MANE Select	ENSP00000406012.2:p.Leu1406His
ENST00000361339.9:c.1799T>A	ENSP00000354895.5:p.Leu600His
ENST00000397417.6:c.*2655T>A	ENSP00000380562.2:n.*2655T>A
ENST00000426508.6:c.4217T>A	ENSP00000406012.2:p.Leu1406His
ENST00000565298.5:n.4041T>A
NM_014714.3:c.4217T>A	NP_055529.2:p.Leu1406His
XM_006720989.2:c.4217T>A	XP_006721052.1:p.Leu1406His
XM_006720990.2:c.4217T>A	XP_006721053.1:p.Leu1406His
XM_006720991.2:c.4217T>A	XP_006721054.1:p.Leu1406His
XM_006720992.2:c.1850T>A	XP_006721055.1:p.Leu617His
XM_011522766.1:c.3971T>A	XP_011521068.1:p.Leu1324His
XM_011522767.1:c.3242T>A	XP_011521069.1:p.Leu1081His
XM_006720990.3:c.4217T>A	XP_006721053.1:p.Leu1406His
XM_006720991.3:c.4217T>A	XP_006721054.1:p.Leu1406His
XM_006720992.3:c.1850T>A	XP_006721055.1:p.Leu617His
XM_011522766.3:c.3971T>A	XP_011521068.1:p.Leu1324His
XM_011522767.2:c.3242T>A	XP_011521069.1:p.Leu1081His
XM_017023910.1:c.4217T>A	XP_016879399.1:p.Leu1406His
XM_017023911.1:c.2402T>A	XP_016879400.1:p.Leu801His
NM_014714.4:c.4217T>A MANE Select	NP_055529.2:p.Leu1406His