Canonical Allele Identifier: CA493031461

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570177C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520176C>A , CM000678.2:g.1520176C>A	GRCh38
NC_000016.9:g.1570177C>A , CM000678.1:g.1570177C>A	GRCh37
NC_000016.8:g.1510178C>A	NCBI36
NG_032783.1:g.96933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3828G>T MANE Select	ENSP00000406012.2:p.Gly1276=
ENST00000361339.9:c.1410G>T	ENSP00000354895.5:p.Gly470=
ENST00000397417.6:c.*2266G>T	ENSP00000380562.2:n.*2266G>T
ENST00000426508.6:c.3828G>T	ENSP00000406012.2:p.Gly1276=
ENST00000565298.5:n.3652G>T
NM_014714.3:c.3828G>T	NP_055529.2:p.Gly1276=
XM_006720989.2:c.3828G>T	XP_006721052.1:p.Gly1276=
XM_006720990.2:c.3828G>T	XP_006721053.1:p.Gly1276=
XM_006720991.2:c.3828G>T	XP_006721054.1:p.Gly1276=
XM_006720992.2:c.1461G>T	XP_006721055.1:p.Gly487=
XM_011522766.1:c.3582G>T	XP_011521068.1:p.Gly1194=
XM_011522767.1:c.2853G>T	XP_011521069.1:p.Gly951=
XM_006720990.3:c.3828G>T	XP_006721053.1:p.Gly1276=
XM_006720991.3:c.3828G>T	XP_006721054.1:p.Gly1276=
XM_006720992.3:c.1461G>T	XP_006721055.1:p.Gly487=
XM_011522766.3:c.3582G>T	XP_011521068.1:p.Gly1194=
XM_011522767.2:c.2853G>T	XP_011521069.1:p.Gly951=
XM_017023910.1:c.3828G>T	XP_016879399.1:p.Gly1276=
XM_017023911.1:c.2013G>T	XP_016879400.1:p.Gly671=
NM_014714.4:c.3828G>T MANE Select	NP_055529.2:p.Gly1276=