Canonical Allele Identifier: CA394214447

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1364414
• ClinVar RCV Id: RCV001942400
• dbSNP Id: rs2141817075
• gnomAD v4: 16-1584242-T-C
• MyVariant Identifiers: chr16:g.1634243T>C (hg19) ; chr16:g.1584242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584242T>C , CM000678.2:g.1584242T>C	GRCh38
NC_000016.9:g.1634243T>C , CM000678.1:g.1634243T>C	GRCh37
NC_000016.8:g.1574244T>C	NCBI36
NG_032783.1:g.32867A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1334A>G MANE Select	ENSP00000406012.2:p.His445Arg
ENST00000397417.6:c.507A>G	ENSP00000380562.2:p.Ala169=
ENST00000426508.6:c.1334A>G	ENSP00000406012.2:p.His445Arg
ENST00000439987.6:n.1395A>G
ENST00000565298.5:n.22A>G
NM_014714.3:c.1334A>G	NP_055529.2:p.His445Arg
XM_005255725.3:c.1334A>G	XP_005255782.1:p.His445Arg
XM_005255726.2:c.1334A>G	XP_005255783.1:p.His445Arg
XM_006720989.2:c.1334A>G	XP_006721052.1:p.His445Arg
XM_006720990.2:c.1334A>G	XP_006721053.1:p.His445Arg
XM_006720991.2:c.1334A>G	XP_006721054.1:p.His445Arg
XM_011522766.1:c.1334A>G	XP_011521068.1:p.His445Arg
XM_011522767.1:c.359A>G	XP_011521069.1:p.His120Arg
XM_011522768.1:c.1334A>G	XP_011521070.1:p.His445Arg
XM_011522769.1:c.1334A>G	XP_011521071.1:p.His445Arg
XM_011522771.1:c.1334A>G	XP_011521073.1:p.His445Arg
XM_011522772.1:c.1334A>G	XP_011521074.1:p.His445Arg
NR_135176.1:n.59+3657T>C
XM_005255725.5:c.1334A>G	XP_005255782.1:p.His445Arg
XM_005255726.4:c.1334A>G	XP_005255783.1:p.His445Arg
XM_006720990.3:c.1334A>G	XP_006721053.1:p.His445Arg
XM_006720991.3:c.1334A>G	XP_006721054.1:p.His445Arg
XM_011522766.3:c.1334A>G	XP_011521068.1:p.His445Arg
XM_011522767.2:c.359A>G	XP_011521069.1:p.His120Arg
XM_011522769.3:c.1334A>G	XP_011521071.1:p.His445Arg
XM_011522771.3:c.1334A>G	XP_011521073.1:p.His445Arg
XM_011522772.3:c.1334A>G	XP_011521074.1:p.His445Arg
XM_017023910.1:c.1334A>G	XP_016879399.1:p.His445Arg
XM_017023911.1:c.-364A>G	XP_016879400.1:n.-364A>G
NM_014714.4:c.1334A>G MANE Select	NP_055529.2:p.His445Arg