Canonical Allele Identifier: CA276675952

Gene: IFT140

Linked Data

• ClinVar Variation Id: 862131
• ClinVar RCV Id: RCV001068793 ; RCV002482123
• dbSNP Id: rs952706482
• gnomAD v2: 16-1570703-G-A
• gnomAD v3: 16-1520702-G-A
• gnomAD v4: 16-1520702-G-A
• MyVariant Identifiers: chr16:g.1570703G>A (hg19) ; chr16:g.1520702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520702G>A , CM000678.2:g.1520702G>A	GRCh38
NC_000016.9:g.1570703G>A , CM000678.1:g.1570703G>A	GRCh37
NC_000016.8:g.1510704G>A	NCBI36
NG_032783.1:g.96407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3560C>T MANE Select	ENSP00000406012.2:p.Ser1187Leu
ENST00000361339.9:c.1142C>T	ENSP00000354895.5:p.Ser381Leu
ENST00000397417.6:c.*1998C>T	ENSP00000380562.2:n.*1998C>T
ENST00000426508.6:c.3560C>T	ENSP00000406012.2:p.Ser1187Leu
ENST00000565298.5:n.3384C>T
NM_014714.3:c.3560C>T	NP_055529.2:p.Ser1187Leu
XM_006720989.2:c.3560C>T	XP_006721052.1:p.Ser1187Leu
XM_006720990.2:c.3560C>T	XP_006721053.1:p.Ser1187Leu
XM_006720991.2:c.3560C>T	XP_006721054.1:p.Ser1187Leu
XM_006720992.2:c.1193C>T	XP_006721055.1:p.Ser398Leu
XM_011522766.1:c.3314C>T	XP_011521068.1:p.Ser1105Leu
XM_011522767.1:c.2585C>T	XP_011521069.1:p.Ser862Leu
XM_006720990.3:c.3560C>T	XP_006721053.1:p.Ser1187Leu
XM_006720991.3:c.3560C>T	XP_006721054.1:p.Ser1187Leu
XM_006720992.3:c.1193C>T	XP_006721055.1:p.Ser398Leu
XM_011522766.3:c.3314C>T	XP_011521068.1:p.Ser1105Leu
XM_011522767.2:c.2585C>T	XP_011521069.1:p.Ser862Leu
XM_017023910.1:c.3560C>T	XP_016879399.1:p.Ser1187Leu
XM_017023911.1:c.1745C>T	XP_016879400.1:p.Ser582Leu
NM_014714.4:c.3560C>T MANE Select	NP_055529.2:p.Ser1187Leu