Canonical Allele Identifier: CA7812833

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1966337
• ClinVar RCV Id: RCV002716498
• dbSNP Id: rs770636131
• ExAC: 16:1561144 C / T
• gnomAD v2: 16-1561144-C-T
• gnomAD v4: 16-1511143-C-T
• MyVariant Identifiers: chr16:g.1561144C>T (hg19) ; chr16:g.1511143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511143C>T , CM000678.2:g.1511143C>T	GRCh38
NC_000016.9:g.1561144C>T , CM000678.1:g.1561144C>T	GRCh37
NC_000016.8:g.1501145C>T	NCBI36
NG_032783.1:g.105966G>A
NG_050910.1:g.22800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4190G>A MANE Select	ENSP00000406012.2:p.Arg1397Lys
ENST00000361339.9:c.1772G>A	ENSP00000354895.5:p.Arg591Lys
ENST00000397417.6:c.*2628G>A	ENSP00000380562.2:n.*2628G>A
ENST00000426508.6:c.4190G>A	ENSP00000406012.2:p.Arg1397Lys
ENST00000565298.5:n.4014G>A
NM_014714.3:c.4190G>A	NP_055529.2:p.Arg1397Lys
XM_006720989.2:c.4190G>A	XP_006721052.1:p.Arg1397Lys
XM_006720990.2:c.4190G>A	XP_006721053.1:p.Arg1397Lys
XM_006720991.2:c.4190G>A	XP_006721054.1:p.Arg1397Lys
XM_006720992.2:c.1823G>A	XP_006721055.1:p.Arg608Lys
XM_011522766.1:c.3944G>A	XP_011521068.1:p.Arg1315Lys
XM_011522767.1:c.3215G>A	XP_011521069.1:p.Arg1072Lys
XM_006720990.3:c.4190G>A	XP_006721053.1:p.Arg1397Lys
XM_006720991.3:c.4190G>A	XP_006721054.1:p.Arg1397Lys
XM_006720992.3:c.1823G>A	XP_006721055.1:p.Arg608Lys
XM_011522766.3:c.3944G>A	XP_011521068.1:p.Arg1315Lys
XM_011522767.2:c.3215G>A	XP_011521069.1:p.Arg1072Lys
XM_017023910.1:c.4190G>A	XP_016879399.1:p.Arg1397Lys
XM_017023911.1:c.2375G>A	XP_016879400.1:p.Arg792Lys
NM_014714.4:c.4190G>A MANE Select	NP_055529.2:p.Arg1397Lys