Canonical Allele Identifier: CA493031607

Gene: IFT140

Linked Data

• dbSNP Id: rs1388192940
• gnomAD v2: 16-1561119-C-T
• gnomAD v4: 16-1511118-C-T
• MyVariant Identifiers: chr16:g.1561119C>T (hg19) ; chr16:g.1511118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511118C>T , CM000678.2:g.1511118C>T	GRCh38
NC_000016.9:g.1561119C>T , CM000678.1:g.1561119C>T	GRCh37
NC_000016.8:g.1501120C>T	NCBI36
NG_032783.1:g.105991G>A
NG_050910.1:g.22775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4215G>A MANE Select	ENSP00000406012.2:p.Arg1405=
ENST00000361339.9:c.1797G>A	ENSP00000354895.5:p.Arg599=
ENST00000397417.6:c.*2653G>A	ENSP00000380562.2:n.*2653G>A
ENST00000426508.6:c.4215G>A	ENSP00000406012.2:p.Arg1405=
ENST00000565298.5:n.4039G>A
NM_014714.3:c.4215G>A	NP_055529.2:p.Arg1405=
XM_006720989.2:c.4215G>A	XP_006721052.1:p.Arg1405=
XM_006720990.2:c.4215G>A	XP_006721053.1:p.Arg1405=
XM_006720991.2:c.4215G>A	XP_006721054.1:p.Arg1405=
XM_006720992.2:c.1848G>A	XP_006721055.1:p.Arg616=
XM_011522766.1:c.3969G>A	XP_011521068.1:p.Arg1323=
XM_011522767.1:c.3240G>A	XP_011521069.1:p.Arg1080=
XM_006720990.3:c.4215G>A	XP_006721053.1:p.Arg1405=
XM_006720991.3:c.4215G>A	XP_006721054.1:p.Arg1405=
XM_006720992.3:c.1848G>A	XP_006721055.1:p.Arg616=
XM_011522766.3:c.3969G>A	XP_011521068.1:p.Arg1323=
XM_011522767.2:c.3240G>A	XP_011521069.1:p.Arg1080=
XM_017023910.1:c.4215G>A	XP_016879399.1:p.Arg1405=
XM_017023911.1:c.2400G>A	XP_016879400.1:p.Arg800=
NM_014714.4:c.4215G>A MANE Select	NP_055529.2:p.Arg1405=