Canonical Allele Identifier: CA394225387

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1573637A>T (hg19) ; chr16:g.1523636A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523636A>T , CM000678.2:g.1523636A>T	GRCh38
NC_000016.9:g.1573637A>T , CM000678.1:g.1573637A>T	GRCh37
NC_000016.8:g.1513638A>T	NCBI36
NG_032783.1:g.93473T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3335T>A MANE Select	ENSP00000406012.2:p.Leu1112His
ENST00000361339.9:c.917T>A	ENSP00000354895.5:p.Leu306His
ENST00000397417.6:c.*1773T>A	ENSP00000380562.2:n.*1773T>A
ENST00000426508.6:c.3335T>A	ENSP00000406012.2:p.Leu1112His
ENST00000565298.5:n.3159T>A
NM_014714.3:c.3335T>A	NP_055529.2:p.Leu1112His
XM_006720989.2:c.3335T>A	XP_006721052.1:p.Leu1112His
XM_006720990.2:c.3335T>A	XP_006721053.1:p.Leu1112His
XM_006720991.2:c.3335T>A	XP_006721054.1:p.Leu1112His
XM_006720992.2:c.968T>A	XP_006721055.1:p.Leu323His
XM_011522766.1:c.3089T>A	XP_011521068.1:p.Leu1030His
XM_011522767.1:c.2360T>A	XP_011521069.1:p.Leu787His
XM_006720990.3:c.3335T>A	XP_006721053.1:p.Leu1112His
XM_006720991.3:c.3335T>A	XP_006721054.1:p.Leu1112His
XM_006720992.3:c.968T>A	XP_006721055.1:p.Leu323His
XM_011522766.3:c.3089T>A	XP_011521068.1:p.Leu1030His
XM_011522767.2:c.2360T>A	XP_011521069.1:p.Leu787His
XM_017023910.1:c.3335T>A	XP_016879399.1:p.Leu1112His
XM_017023911.1:c.1520T>A	XP_016879400.1:p.Leu507His
NM_014714.4:c.3335T>A MANE Select	NP_055529.2:p.Leu1112His