Canonical Allele Identifier: CA394224929

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570722A>T (hg19) ; chr16:g.1520721A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520721A>T , CM000678.2:g.1520721A>T	GRCh38
NC_000016.9:g.1570722A>T , CM000678.1:g.1570722A>T	GRCh37
NC_000016.8:g.1510723A>T	NCBI36
NG_032783.1:g.96388T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3541T>A MANE Select	ENSP00000406012.2:p.Ser1181Thr
ENST00000361339.9:c.1123T>A	ENSP00000354895.5:p.Ser375Thr
ENST00000397417.6:c.*1979T>A	ENSP00000380562.2:n.*1979T>A
ENST00000426508.6:c.3541T>A	ENSP00000406012.2:p.Ser1181Thr
ENST00000565298.5:n.3365T>A
NM_014714.3:c.3541T>A	NP_055529.2:p.Ser1181Thr
XM_006720989.2:c.3541T>A	XP_006721052.1:p.Ser1181Thr
XM_006720990.2:c.3541T>A	XP_006721053.1:p.Ser1181Thr
XM_006720991.2:c.3541T>A	XP_006721054.1:p.Ser1181Thr
XM_006720992.2:c.1174T>A	XP_006721055.1:p.Ser392Thr
XM_011522766.1:c.3295T>A	XP_011521068.1:p.Ser1099Thr
XM_011522767.1:c.2566T>A	XP_011521069.1:p.Ser856Thr
XM_006720990.3:c.3541T>A	XP_006721053.1:p.Ser1181Thr
XM_006720991.3:c.3541T>A	XP_006721054.1:p.Ser1181Thr
XM_006720992.3:c.1174T>A	XP_006721055.1:p.Ser392Thr
XM_011522766.3:c.3295T>A	XP_011521068.1:p.Ser1099Thr
XM_011522767.2:c.2566T>A	XP_011521069.1:p.Ser856Thr
XM_017023910.1:c.3541T>A	XP_016879399.1:p.Ser1181Thr
XM_017023911.1:c.1726T>A	XP_016879400.1:p.Ser576Thr
NM_014714.4:c.3541T>A MANE Select	NP_055529.2:p.Ser1181Thr