Canonical Allele Identifier: CA7813135

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1981361
• ClinVar RCV Id: RCV002751436
• dbSNP Id: rs779369384
• ExAC: 16:1570767 T / C
• gnomAD v2: 16-1570767-T-C
• gnomAD v3: 16-1520766-T-C
• gnomAD v4: 16-1520766-T-C
• MyVariant Identifiers: chr16:g.1570767T>C (hg19) ; chr16:g.1520766T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520766T>C , CM000678.2:g.1520766T>C	GRCh38
NC_000016.9:g.1570767T>C , CM000678.1:g.1570767T>C	GRCh37
NC_000016.8:g.1510768T>C	NCBI36
NG_032783.1:g.96343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3496A>G MANE Select	ENSP00000406012.2:p.Ile1166Val
ENST00000361339.9:c.1078A>G	ENSP00000354895.5:p.Ile360Val
ENST00000397417.6:c.*1934A>G	ENSP00000380562.2:n.*1934A>G
ENST00000426508.6:c.3496A>G	ENSP00000406012.2:p.Ile1166Val
ENST00000565298.5:n.3320A>G
NM_014714.3:c.3496A>G	NP_055529.2:p.Ile1166Val
XM_006720989.2:c.3496A>G	XP_006721052.1:p.Ile1166Val
XM_006720990.2:c.3496A>G	XP_006721053.1:p.Ile1166Val
XM_006720991.2:c.3496A>G	XP_006721054.1:p.Ile1166Val
XM_006720992.2:c.1129A>G	XP_006721055.1:p.Ile377Val
XM_011522766.1:c.3250A>G	XP_011521068.1:p.Ile1084Val
XM_011522767.1:c.2521A>G	XP_011521069.1:p.Ile841Val
XM_006720990.3:c.3496A>G	XP_006721053.1:p.Ile1166Val
XM_006720991.3:c.3496A>G	XP_006721054.1:p.Ile1166Val
XM_006720992.3:c.1129A>G	XP_006721055.1:p.Ile377Val
XM_011522766.3:c.3250A>G	XP_011521068.1:p.Ile1084Val
XM_011522767.2:c.2521A>G	XP_011521069.1:p.Ile841Val
XM_017023910.1:c.3496A>G	XP_016879399.1:p.Ile1166Val
XM_017023911.1:c.1681A>G	XP_016879400.1:p.Ile561Val
NM_014714.4:c.3496A>G MANE Select	NP_055529.2:p.Ile1166Val