Canonical Allele Identifier: CA493031307

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1569941G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519940G>C , CM000678.2:g.1519940G>C	GRCh38
NC_000016.9:g.1569941G>C , CM000678.1:g.1569941G>C	GRCh37
NC_000016.8:g.1509942G>C	NCBI36
NG_032783.1:g.97169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3981C>G MANE Select	ENSP00000406012.2:p.Thr1327=
ENST00000361339.9:c.1563C>G	ENSP00000354895.5:p.Thr521=
ENST00000397417.6:c.*2419C>G	ENSP00000380562.2:n.*2419C>G
ENST00000426508.6:c.3981C>G	ENSP00000406012.2:p.Thr1327=
ENST00000565298.5:n.3805C>G
ENST00000568837.1:c.99C>G	ENSP00000458439.1:p.Thr33=
NM_014714.3:c.3981C>G	NP_055529.2:p.Thr1327=
XM_006720989.2:c.3981C>G	XP_006721052.1:p.Thr1327=
XM_006720990.2:c.3981C>G	XP_006721053.1:p.Thr1327=
XM_006720991.2:c.3981C>G	XP_006721054.1:p.Thr1327=
XM_006720992.2:c.1614C>G	XP_006721055.1:p.Thr538=
XM_011522766.1:c.3735C>G	XP_011521068.1:p.Thr1245=
XM_011522767.1:c.3006C>G	XP_011521069.1:p.Thr1002=
XM_006720990.3:c.3981C>G	XP_006721053.1:p.Thr1327=
XM_006720991.3:c.3981C>G	XP_006721054.1:p.Thr1327=
XM_006720992.3:c.1614C>G	XP_006721055.1:p.Thr538=
XM_011522766.3:c.3735C>G	XP_011521068.1:p.Thr1245=
XM_011522767.2:c.3006C>G	XP_011521069.1:p.Thr1002=
XM_017023910.1:c.3981C>G	XP_016879399.1:p.Thr1327=
XM_017023911.1:c.2166C>G	XP_016879400.1:p.Thr722=
NM_014714.4:c.3981C>G MANE Select	NP_055529.2:p.Thr1327=