Canonical Allele Identifier: CA394227094

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1575890A>C (hg19) ; chr16:g.1525889A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525889A>C , CM000678.2:g.1525889A>C	GRCh38
NC_000016.9:g.1575890A>C , CM000678.1:g.1575890A>C	GRCh37
NC_000016.8:g.1515891A>C	NCBI36
NG_032783.1:g.91220T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2766T>G MANE Select	ENSP00000406012.2:p.Ser922Arg
ENST00000361339.9:c.348T>G	ENSP00000354895.5:p.Ser116Arg
ENST00000397417.6:c.*1204T>G	ENSP00000380562.2:n.*1204T>G
ENST00000426508.6:c.2766T>G	ENSP00000406012.2:p.Ser922Arg
ENST00000565298.5:n.1995T>G
ENST00000566818.1:n.481T>G
NM_014714.3:c.2766T>G	NP_055529.2:p.Ser922Arg
XM_006720989.2:c.2766T>G	XP_006721052.1:p.Ser922Arg
XM_006720990.2:c.2766T>G	XP_006721053.1:p.Ser922Arg
XM_006720991.2:c.2766T>G	XP_006721054.1:p.Ser922Arg
XM_006720992.2:c.399T>G	XP_006721055.1:p.Ser133Arg
XM_011522766.1:c.2520T>G	XP_011521068.1:p.Ser840Arg
XM_011522767.1:c.1791T>G	XP_011521069.1:p.Ser597Arg
XM_006720990.3:c.2766T>G	XP_006721053.1:p.Ser922Arg
XM_006720991.3:c.2766T>G	XP_006721054.1:p.Ser922Arg
XM_006720992.3:c.399T>G	XP_006721055.1:p.Ser133Arg
XM_011522766.3:c.2520T>G	XP_011521068.1:p.Ser840Arg
XM_011522767.2:c.1791T>G	XP_011521069.1:p.Ser597Arg
XM_017023910.1:c.2766T>G	XP_016879399.1:p.Ser922Arg
XM_017023911.1:c.951T>G	XP_016879400.1:p.Ser317Arg
NM_014714.4:c.2766T>G MANE Select	NP_055529.2:p.Ser922Arg