Canonical Allele Identifier: CA129889

Gene: IFT140

Linked Data

• ClinVar Variation Id: 31683
• ClinVar RCV Id: RCV000024363 ; RCV000255441 ; RCV000515934 ; RCV001328311 ; RCV000626465 ; RCV001249674
• dbSNP Id: rs201188361
• ExAC: 16:1642177 C / T
• gnomAD v2: 16-1642177-C-T
• gnomAD v3: 16-1592176-C-T
• gnomAD v4: 16-1592176-C-T
• COSMIC: COSM240198
• MyVariant Identifiers: chr16:g.1642177C>T (hg19) ; chr16:g.1592176C>T (hg38)
• PubMed: PMID:22503633 ; PMID:28288023 ; PMID:28724397 ; PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1592176C>T , CM000678.2:g.1592176C>T	GRCh38
NC_000016.9:g.1642177C>T , CM000678.1:g.1642177C>T	GRCh37
NC_000016.8:g.1582178C>T	NCBI36
NG_032783.1:g.24933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.634G>A MANE Select	ENSP00000406012.2:p.Gly212Arg
ENST00000397417.6:c.329-7756G>A	ENSP00000380562.2:n.329-7756G>A
ENST00000426508.6:c.634G>A	ENSP00000406012.2:p.Gly212Arg
ENST00000439987.6:n.695G>A
NM_014714.3:c.634G>A	NP_055529.2:p.Gly212Arg
XM_005255725.3:c.634G>A	XP_005255782.1:p.Gly212Arg
XM_005255726.2:c.634G>A	XP_005255783.1:p.Gly212Arg
XM_006720989.2:c.634G>A	XP_006721052.1:p.Gly212Arg
XM_006720990.2:c.634G>A	XP_006721053.1:p.Gly212Arg
XM_006720991.2:c.634G>A	XP_006721054.1:p.Gly212Arg
XM_011522766.1:c.634G>A	XP_011521068.1:p.Gly212Arg
XM_011522768.1:c.634G>A	XP_011521070.1:p.Gly212Arg
XM_011522769.1:c.634G>A	XP_011521071.1:p.Gly212Arg
XM_011522771.1:c.634G>A	XP_011521073.1:p.Gly212Arg
XM_011522772.1:c.634G>A	XP_011521074.1:p.Gly212Arg
NR_135176.1:n.59+11591C>T
XM_005255725.5:c.634G>A	XP_005255782.1:p.Gly212Arg
XM_005255726.4:c.634G>A	XP_005255783.1:p.Gly212Arg
XM_006720990.3:c.634G>A	XP_006721053.1:p.Gly212Arg
XM_006720991.3:c.634G>A	XP_006721054.1:p.Gly212Arg
XM_011522766.3:c.634G>A	XP_011521068.1:p.Gly212Arg
XM_011522769.3:c.634G>A	XP_011521071.1:p.Gly212Arg
XM_011522771.3:c.634G>A	XP_011521073.1:p.Gly212Arg
XM_011522772.3:c.634G>A	XP_011521074.1:p.Gly212Arg
XM_017023910.1:c.634G>A	XP_016879399.1:p.Gly212Arg
XM_017023911.1:c.-1064G>A	XP_016879400.1:n.-1064G>A
NM_014714.4:c.634G>A MANE Select	NP_055529.2:p.Gly212Arg