Canonical Allele Identifier: CA7812819

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1349781
• ClinVar RCV Id: RCV002039263
• dbSNP Id: rs752233693
• ExAC: 16:1561102 A / C
• gnomAD v2: 16-1561102-A-C
• gnomAD v4: 16-1511101-A-C
• MyVariant Identifiers: chr16:g.1561102A>C (hg19) ; chr16:g.1511101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511101A>C , CM000678.2:g.1511101A>C	GRCh38
NC_000016.9:g.1561102A>C , CM000678.1:g.1561102A>C	GRCh37
NC_000016.8:g.1501103A>C	NCBI36
NG_032783.1:g.106008T>G
NG_050910.1:g.22758A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4232T>G MANE Select	ENSP00000406012.2:p.Met1411Arg
ENST00000361339.9:c.1814T>G	ENSP00000354895.5:p.Met605Arg
ENST00000397417.6:c.*2670T>G	ENSP00000380562.2:n.*2670T>G
ENST00000426508.6:c.4232T>G	ENSP00000406012.2:p.Met1411Arg
ENST00000565298.5:n.4056T>G
NM_014714.3:c.4232T>G	NP_055529.2:p.Met1411Arg
XM_006720989.2:c.4232T>G	XP_006721052.1:p.Met1411Arg
XM_006720990.2:c.4232T>G	XP_006721053.1:p.Met1411Arg
XM_006720991.2:c.4232T>G	XP_006721054.1:p.Met1411Arg
XM_006720992.2:c.1865T>G	XP_006721055.1:p.Met622Arg
XM_011522766.1:c.3986T>G	XP_011521068.1:p.Met1329Arg
XM_011522767.1:c.3257T>G	XP_011521069.1:p.Met1086Arg
XM_006720990.3:c.4232T>G	XP_006721053.1:p.Met1411Arg
XM_006720991.3:c.4232T>G	XP_006721054.1:p.Met1411Arg
XM_006720992.3:c.1865T>G	XP_006721055.1:p.Met622Arg
XM_011522766.3:c.3986T>G	XP_011521068.1:p.Met1329Arg
XM_011522767.2:c.3257T>G	XP_011521069.1:p.Met1086Arg
XM_017023910.1:c.4232T>G	XP_016879399.1:p.Met1411Arg
XM_017023911.1:c.2417T>G	XP_016879400.1:p.Met806Arg
NM_014714.4:c.4232T>G MANE Select	NP_055529.2:p.Met1411Arg