Canonical Allele Identifier: CA493031558

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1561098G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511097G>C , CM000678.2:g.1511097G>C	GRCh38
NC_000016.9:g.1561098G>C , CM000678.1:g.1561098G>C	GRCh37
NC_000016.8:g.1501099G>C	NCBI36
NG_032783.1:g.106012C>G
NG_050910.1:g.22754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4236C>G MANE Select	ENSP00000406012.2:p.Ser1412=
ENST00000361339.9:c.1818C>G	ENSP00000354895.5:p.Ser606=
ENST00000397417.6:c.*2674C>G	ENSP00000380562.2:n.*2674C>G
ENST00000426508.6:c.4236C>G	ENSP00000406012.2:p.Ser1412=
ENST00000565298.5:n.4060C>G
NM_014714.3:c.4236C>G	NP_055529.2:p.Ser1412=
XM_006720989.2:c.4236C>G	XP_006721052.1:p.Ser1412=
XM_006720990.2:c.4236C>G	XP_006721053.1:p.Ser1412=
XM_006720991.2:c.4236C>G	XP_006721054.1:p.Ser1412=
XM_006720992.2:c.1869C>G	XP_006721055.1:p.Ser623=
XM_011522766.1:c.3990C>G	XP_011521068.1:p.Ser1330=
XM_011522767.1:c.3261C>G	XP_011521069.1:p.Ser1087=
XM_006720990.3:c.4236C>G	XP_006721053.1:p.Ser1412=
XM_006720991.3:c.4236C>G	XP_006721054.1:p.Ser1412=
XM_006720992.3:c.1869C>G	XP_006721055.1:p.Ser623=
XM_011522766.3:c.3990C>G	XP_011521068.1:p.Ser1330=
XM_011522767.2:c.3261C>G	XP_011521069.1:p.Ser1087=
XM_017023910.1:c.4236C>G	XP_016879399.1:p.Ser1412=
XM_017023911.1:c.2421C>G	XP_016879400.1:p.Ser807=
NM_014714.4:c.4236C>G MANE Select	NP_055529.2:p.Ser1412=