Canonical Allele Identifier: CA394205970

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1513399
• ClinVar RCV Id: RCV002026151
• dbSNP Id: rs765410918
• gnomAD v4: 16-1566208-T-G
• MyVariant Identifiers: chr16:g.1616209T>G (hg19) ; chr16:g.1566208T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566208T>G , CM000678.2:g.1566208T>G	GRCh38
NC_000016.9:g.1616209T>G , CM000678.1:g.1616209T>G	GRCh37
NC_000016.8:g.1556210T>G	NCBI36
NG_032783.1:g.50901A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1854A>C MANE Select	ENSP00000406012.2:p.Gln618His
ENST00000397417.6:c.*406A>C	ENSP00000380562.2:n.*406A>C
ENST00000426508.6:c.1854A>C	ENSP00000406012.2:p.Gln618His
ENST00000439987.6:n.1915A>C
ENST00000565298.5:n.542A>C
NM_014714.3:c.1854A>C	NP_055529.2:p.Gln618His
XM_005255725.3:c.1854A>C	XP_005255782.1:p.Gln618His
XM_005255726.2:c.1854A>C	XP_005255783.1:p.Gln618His
XM_006720989.2:c.1854A>C	XP_006721052.1:p.Gln618His
XM_006720990.2:c.1854A>C	XP_006721053.1:p.Gln618His
XM_006720991.2:c.1854A>C	XP_006721054.1:p.Gln618His
XM_011522766.1:c.1608A>C	XP_011521068.1:p.Gln536His
XM_011522767.1:c.879A>C	XP_011521069.1:p.Gln293His
XM_011522768.1:c.1854A>C	XP_011521070.1:p.Gln618His
XM_011522769.1:c.1854A>C	XP_011521071.1:p.Gln618His
XM_011522771.1:c.1854A>C	XP_011521073.1:p.Gln618His
XM_011522772.1:c.1854A>C	XP_011521074.1:p.Gln618His
XM_005255725.5:c.1854A>C	XP_005255782.1:p.Gln618His
XM_005255726.4:c.1854A>C	XP_005255783.1:p.Gln618His
XM_006720990.3:c.1854A>C	XP_006721053.1:p.Gln618His
XM_006720991.3:c.1854A>C	XP_006721054.1:p.Gln618His
XM_011522766.3:c.1608A>C	XP_011521068.1:p.Gln536His
XM_011522767.2:c.879A>C	XP_011521069.1:p.Gln293His
XM_011522769.3:c.1854A>C	XP_011521071.1:p.Gln618His
XM_011522771.3:c.1854A>C	XP_011521073.1:p.Gln618His
XM_011522772.3:c.1854A>C	XP_011521074.1:p.Gln618His
XM_017023910.1:c.1854A>C	XP_016879399.1:p.Gln618His
XM_017023911.1:c.39A>C	XP_016879400.1:p.Gln13His
NM_014714.4:c.1854A>C MANE Select	NP_055529.2:p.Gln618His