Canonical Allele Identifier: CA394223977

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1569940T>C (hg19) ; chr16:g.1519939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519939T>C , CM000678.2:g.1519939T>C	GRCh38
NC_000016.9:g.1569940T>C , CM000678.1:g.1569940T>C	GRCh37
NC_000016.8:g.1509941T>C	NCBI36
NG_032783.1:g.97170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3982A>G MANE Select	ENSP00000406012.2:p.Arg1328Gly
ENST00000361339.9:c.1564A>G	ENSP00000354895.5:p.Arg522Gly
ENST00000397417.6:c.*2420A>G	ENSP00000380562.2:n.*2420A>G
ENST00000426508.6:c.3982A>G	ENSP00000406012.2:p.Arg1328Gly
ENST00000565298.5:n.3806A>G
ENST00000568837.1:c.100A>G	ENSP00000458439.1:p.Arg34Gly
NM_014714.3:c.3982A>G	NP_055529.2:p.Arg1328Gly
XM_006720989.2:c.3982A>G	XP_006721052.1:p.Arg1328Gly
XM_006720990.2:c.3982A>G	XP_006721053.1:p.Arg1328Gly
XM_006720991.2:c.3982A>G	XP_006721054.1:p.Arg1328Gly
XM_006720992.2:c.1615A>G	XP_006721055.1:p.Arg539Gly
XM_011522766.1:c.3736A>G	XP_011521068.1:p.Arg1246Gly
XM_011522767.1:c.3007A>G	XP_011521069.1:p.Arg1003Gly
XM_006720990.3:c.3982A>G	XP_006721053.1:p.Arg1328Gly
XM_006720991.3:c.3982A>G	XP_006721054.1:p.Arg1328Gly
XM_006720992.3:c.1615A>G	XP_006721055.1:p.Arg539Gly
XM_011522766.3:c.3736A>G	XP_011521068.1:p.Arg1246Gly
XM_011522767.2:c.3007A>G	XP_011521069.1:p.Arg1003Gly
XM_017023910.1:c.3982A>G	XP_016879399.1:p.Arg1328Gly
XM_017023911.1:c.2167A>G	XP_016879400.1:p.Arg723Gly
NM_014714.4:c.3982A>G MANE Select	NP_055529.2:p.Arg1328Gly