Canonical Allele Identifier: CA394225028

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1401607
• ClinVar RCV Id: RCV001912973
• dbSNP Id: rs1294933019
• gnomAD v2: 16-1570766-A-G
• gnomAD v4: 16-1520765-A-G
• MyVariant Identifiers: chr16:g.1570766A>G (hg19) ; chr16:g.1520765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520765A>G , CM000678.2:g.1520765A>G	GRCh38
NC_000016.9:g.1570766A>G , CM000678.1:g.1570766A>G	GRCh37
NC_000016.8:g.1510767A>G	NCBI36
NG_032783.1:g.96344T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3497T>C MANE Select	ENSP00000406012.2:p.Ile1166Thr
ENST00000361339.9:c.1079T>C	ENSP00000354895.5:p.Ile360Thr
ENST00000397417.6:c.*1935T>C	ENSP00000380562.2:n.*1935T>C
ENST00000426508.6:c.3497T>C	ENSP00000406012.2:p.Ile1166Thr
ENST00000565298.5:n.3321T>C
NM_014714.3:c.3497T>C	NP_055529.2:p.Ile1166Thr
XM_006720989.2:c.3497T>C	XP_006721052.1:p.Ile1166Thr
XM_006720990.2:c.3497T>C	XP_006721053.1:p.Ile1166Thr
XM_006720991.2:c.3497T>C	XP_006721054.1:p.Ile1166Thr
XM_006720992.2:c.1130T>C	XP_006721055.1:p.Ile377Thr
XM_011522766.1:c.3251T>C	XP_011521068.1:p.Ile1084Thr
XM_011522767.1:c.2522T>C	XP_011521069.1:p.Ile841Thr
XM_006720990.3:c.3497T>C	XP_006721053.1:p.Ile1166Thr
XM_006720991.3:c.3497T>C	XP_006721054.1:p.Ile1166Thr
XM_006720992.3:c.1130T>C	XP_006721055.1:p.Ile377Thr
XM_011522766.3:c.3251T>C	XP_011521068.1:p.Ile1084Thr
XM_011522767.2:c.2522T>C	XP_011521069.1:p.Ile841Thr
XM_017023910.1:c.3497T>C	XP_016879399.1:p.Ile1166Thr
XM_017023911.1:c.1682T>C	XP_016879400.1:p.Ile561Thr
NM_014714.4:c.3497T>C MANE Select	NP_055529.2:p.Ile1166Thr