Canonical Allele Identifier: CA394225461

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1573673A>C (hg19) ; chr16:g.1523672A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523672A>C , CM000678.2:g.1523672A>C	GRCh38
NC_000016.9:g.1573673A>C , CM000678.1:g.1573673A>C	GRCh37
NC_000016.8:g.1513674A>C	NCBI36
NG_032783.1:g.93437T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3299T>G MANE Select	ENSP00000406012.2:p.Leu1100Arg
ENST00000361339.9:c.881T>G	ENSP00000354895.5:p.Leu294Arg
ENST00000397417.6:c.*1737T>G	ENSP00000380562.2:n.*1737T>G
ENST00000426508.6:c.3299T>G	ENSP00000406012.2:p.Leu1100Arg
ENST00000565298.5:n.3123T>G
NM_014714.3:c.3299T>G	NP_055529.2:p.Leu1100Arg
XM_006720989.2:c.3299T>G	XP_006721052.1:p.Leu1100Arg
XM_006720990.2:c.3299T>G	XP_006721053.1:p.Leu1100Arg
XM_006720991.2:c.3299T>G	XP_006721054.1:p.Leu1100Arg
XM_006720992.2:c.932T>G	XP_006721055.1:p.Leu311Arg
XM_011522766.1:c.3053T>G	XP_011521068.1:p.Leu1018Arg
XM_011522767.1:c.2324T>G	XP_011521069.1:p.Leu775Arg
XM_006720990.3:c.3299T>G	XP_006721053.1:p.Leu1100Arg
XM_006720991.3:c.3299T>G	XP_006721054.1:p.Leu1100Arg
XM_006720992.3:c.932T>G	XP_006721055.1:p.Leu311Arg
XM_011522766.3:c.3053T>G	XP_011521068.1:p.Leu1018Arg
XM_011522767.2:c.2324T>G	XP_011521069.1:p.Leu775Arg
XM_017023910.1:c.3299T>G	XP_016879399.1:p.Leu1100Arg
XM_017023911.1:c.1484T>G	XP_016879400.1:p.Leu495Arg
NM_014714.4:c.3299T>G MANE Select	NP_055529.2:p.Leu1100Arg