Canonical Allele Identifier: CA7812785

Gene: IFT140

Linked Data

• ClinVar Variation Id: 465320
• ClinVar RCV Id: RCV000525397 ; RCV002483419 ; RCV002526132 ; RCV003884614
• dbSNP Id: rs758535401
• ExAC: 16:1561016 G / A
• gnomAD v2: 16-1561016-G-A
• gnomAD v3: 16-1511015-G-A
• gnomAD v4: 16-1511015-G-A
• MyVariant Identifiers: chr16:g.1561016G>A (hg19) ; chr16:g.1511015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511015G>A , CM000678.2:g.1511015G>A	GRCh38
NC_000016.9:g.1561016G>A , CM000678.1:g.1561016G>A	GRCh37
NC_000016.8:g.1501017G>A	NCBI36
NG_032783.1:g.106094C>T
NG_050910.1:g.22672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4318C>T MANE Select	ENSP00000406012.2:p.Arg1440Cys
ENST00000361339.9:c.1900C>T	ENSP00000354895.5:p.Arg634Cys
ENST00000397417.6:c.*2756C>T	ENSP00000380562.2:n.*2756C>T
ENST00000426508.6:c.4318C>T	ENSP00000406012.2:p.Arg1440Cys
ENST00000565298.5:n.4142C>T
NM_014714.3:c.4318C>T	NP_055529.2:p.Arg1440Cys
XM_006720989.2:c.4318C>T	XP_006721052.1:p.Arg1440Cys
XM_006720990.2:c.4318C>T	XP_006721053.1:p.Arg1440Cys
XM_006720991.2:c.4318C>T	XP_006721054.1:p.Arg1440Cys
XM_006720992.2:c.1951C>T	XP_006721055.1:p.Arg651Cys
XM_011522766.1:c.4072C>T	XP_011521068.1:p.Arg1358Cys
XM_011522767.1:c.3343C>T	XP_011521069.1:p.Arg1115Cys
XM_006720990.3:c.4318C>T	XP_006721053.1:p.Arg1440Cys
XM_006720991.3:c.4318C>T	XP_006721054.1:p.Arg1440Cys
XM_006720992.3:c.1951C>T	XP_006721055.1:p.Arg651Cys
XM_011522766.3:c.4072C>T	XP_011521068.1:p.Arg1358Cys
XM_011522767.2:c.3343C>T	XP_011521069.1:p.Arg1115Cys
XM_017023910.1:c.4318C>T	XP_016879399.1:p.Arg1440Cys
XM_017023911.1:c.2503C>T	XP_016879400.1:p.Arg835Cys
NM_014714.4:c.4318C>T MANE Select	NP_055529.2:p.Arg1440Cys