Canonical Allele Identifier: CA394225448

Gene: IFT140

Linked Data

• dbSNP Id: rs1235355072
• MyVariant Identifiers: chr16:g.1573665C>T (hg19) ; chr16:g.1523664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523664C>T , CM000678.2:g.1523664C>T	GRCh38
NC_000016.9:g.1573665C>T , CM000678.1:g.1573665C>T	GRCh37
NC_000016.8:g.1513666C>T	NCBI36
NG_032783.1:g.93445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3307G>A MANE Select	ENSP00000406012.2:p.Ala1103Thr
ENST00000361339.9:c.889G>A	ENSP00000354895.5:p.Ala297Thr
ENST00000397417.6:c.*1745G>A	ENSP00000380562.2:n.*1745G>A
ENST00000426508.6:c.3307G>A	ENSP00000406012.2:p.Ala1103Thr
ENST00000565298.5:n.3131G>A
NM_014714.3:c.3307G>A	NP_055529.2:p.Ala1103Thr
XM_006720989.2:c.3307G>A	XP_006721052.1:p.Ala1103Thr
XM_006720990.2:c.3307G>A	XP_006721053.1:p.Ala1103Thr
XM_006720991.2:c.3307G>A	XP_006721054.1:p.Ala1103Thr
XM_006720992.2:c.940G>A	XP_006721055.1:p.Ala314Thr
XM_011522766.1:c.3061G>A	XP_011521068.1:p.Ala1021Thr
XM_011522767.1:c.2332G>A	XP_011521069.1:p.Ala778Thr
XM_006720990.3:c.3307G>A	XP_006721053.1:p.Ala1103Thr
XM_006720991.3:c.3307G>A	XP_006721054.1:p.Ala1103Thr
XM_006720992.3:c.940G>A	XP_006721055.1:p.Ala314Thr
XM_011522766.3:c.3061G>A	XP_011521068.1:p.Ala1021Thr
XM_011522767.2:c.2332G>A	XP_011521069.1:p.Ala778Thr
XM_017023910.1:c.3307G>A	XP_016879399.1:p.Ala1103Thr
XM_017023911.1:c.1492G>A	XP_016879400.1:p.Ala498Thr
NM_014714.4:c.3307G>A MANE Select	NP_055529.2:p.Ala1103Thr