Canonical Allele Identifier: CA394223982

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1569943T>C (hg19) ; chr16:g.1519942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519942T>C , CM000678.2:g.1519942T>C	GRCh38
NC_000016.9:g.1569943T>C , CM000678.1:g.1569943T>C	GRCh37
NC_000016.8:g.1509944T>C	NCBI36
NG_032783.1:g.97167A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3979A>G MANE Select	ENSP00000406012.2:p.Thr1327Ala
ENST00000361339.9:c.1561A>G	ENSP00000354895.5:p.Thr521Ala
ENST00000397417.6:c.*2417A>G	ENSP00000380562.2:n.*2417A>G
ENST00000426508.6:c.3979A>G	ENSP00000406012.2:p.Thr1327Ala
ENST00000565298.5:n.3803A>G
ENST00000568837.1:c.97A>G	ENSP00000458439.1:p.Thr33Ala
NM_014714.3:c.3979A>G	NP_055529.2:p.Thr1327Ala
XM_006720989.2:c.3979A>G	XP_006721052.1:p.Thr1327Ala
XM_006720990.2:c.3979A>G	XP_006721053.1:p.Thr1327Ala
XM_006720991.2:c.3979A>G	XP_006721054.1:p.Thr1327Ala
XM_006720992.2:c.1612A>G	XP_006721055.1:p.Thr538Ala
XM_011522766.1:c.3733A>G	XP_011521068.1:p.Thr1245Ala
XM_011522767.1:c.3004A>G	XP_011521069.1:p.Thr1002Ala
XM_006720990.3:c.3979A>G	XP_006721053.1:p.Thr1327Ala
XM_006720991.3:c.3979A>G	XP_006721054.1:p.Thr1327Ala
XM_006720992.3:c.1612A>G	XP_006721055.1:p.Thr538Ala
XM_011522766.3:c.3733A>G	XP_011521068.1:p.Thr1245Ala
XM_011522767.2:c.3004A>G	XP_011521069.1:p.Thr1002Ala
XM_017023910.1:c.3979A>G	XP_016879399.1:p.Thr1327Ala
XM_017023911.1:c.2164A>G	XP_016879400.1:p.Thr722Ala
NM_014714.4:c.3979A>G MANE Select	NP_055529.2:p.Thr1327Ala