Canonical Allele Identifier: CA394222558

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1561136C>T (hg19) ; chr16:g.1511135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511135C>T , CM000678.2:g.1511135C>T	GRCh38
NC_000016.9:g.1561136C>T , CM000678.1:g.1561136C>T	GRCh37
NC_000016.8:g.1501137C>T	NCBI36
NG_032783.1:g.105974G>A
NG_050910.1:g.22792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4198G>A MANE Select	ENSP00000406012.2:p.Glu1400Lys
ENST00000361339.9:c.1780G>A	ENSP00000354895.5:p.Glu594Lys
ENST00000397417.6:c.*2636G>A	ENSP00000380562.2:n.*2636G>A
ENST00000426508.6:c.4198G>A	ENSP00000406012.2:p.Glu1400Lys
ENST00000565298.5:n.4022G>A
NM_014714.3:c.4198G>A	NP_055529.2:p.Glu1400Lys
XM_006720989.2:c.4198G>A	XP_006721052.1:p.Glu1400Lys
XM_006720990.2:c.4198G>A	XP_006721053.1:p.Glu1400Lys
XM_006720991.2:c.4198G>A	XP_006721054.1:p.Glu1400Lys
XM_006720992.2:c.1831G>A	XP_006721055.1:p.Glu611Lys
XM_011522766.1:c.3952G>A	XP_011521068.1:p.Glu1318Lys
XM_011522767.1:c.3223G>A	XP_011521069.1:p.Glu1075Lys
XM_006720990.3:c.4198G>A	XP_006721053.1:p.Glu1400Lys
XM_006720991.3:c.4198G>A	XP_006721054.1:p.Glu1400Lys
XM_006720992.3:c.1831G>A	XP_006721055.1:p.Glu611Lys
XM_011522766.3:c.3952G>A	XP_011521068.1:p.Glu1318Lys
XM_011522767.2:c.3223G>A	XP_011521069.1:p.Glu1075Lys
XM_017023910.1:c.4198G>A	XP_016879399.1:p.Glu1400Lys
XM_017023911.1:c.2383G>A	XP_016879400.1:p.Glu795Lys
NM_014714.4:c.4198G>A MANE Select	NP_055529.2:p.Glu1400Lys