Canonical Allele Identifier: CA276668314

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1431973
• ClinVar RCV Id: RCV001941031
• dbSNP Id: rs752233693
• gnomAD v4: 16-1511101-A-G
• MyVariant Identifiers: chr16:g.1561102A>G (hg19) ; chr16:g.1511101A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4232T>C MANE Select	ENSP00000406012.2:p.Met1411Thr
ENST00000361339.9:c.1814T>C	ENSP00000354895.5:p.Met605Thr
ENST00000397417.6:c.*2670T>C	ENSP00000380562.2:n.*2670T>C
ENST00000426508.6:c.4232T>C	ENSP00000406012.2:p.Met1411Thr
ENST00000565298.5:n.4056T>C
NM_014714.3:c.4232T>C	NP_055529.2:p.Met1411Thr
XM_006720989.2:c.4232T>C	XP_006721052.1:p.Met1411Thr
XM_006720990.2:c.4232T>C	XP_006721053.1:p.Met1411Thr
XM_006720991.2:c.4232T>C	XP_006721054.1:p.Met1411Thr
XM_006720992.2:c.1865T>C	XP_006721055.1:p.Met622Thr
XM_011522766.1:c.3986T>C	XP_011521068.1:p.Met1329Thr
XM_011522767.1:c.3257T>C	XP_011521069.1:p.Met1086Thr
XM_006720990.3:c.4232T>C	XP_006721053.1:p.Met1411Thr
XM_006720991.3:c.4232T>C	XP_006721054.1:p.Met1411Thr
XM_006720992.3:c.1865T>C	XP_006721055.1:p.Met622Thr
XM_011522766.3:c.3986T>C	XP_011521068.1:p.Met1329Thr
XM_011522767.2:c.3257T>C	XP_011521069.1:p.Met1086Thr
XM_017023910.1:c.4232T>C	XP_016879399.1:p.Met1411Thr
XM_017023911.1:c.2417T>C	XP_016879400.1:p.Met806Thr
NM_014714.4:c.4232T>C MANE Select	NP_055529.2:p.Met1411Thr