Canonical Allele Identifier: CA492923454

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1616230G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566229G>C , CM000678.2:g.1566229G>C	GRCh38
NC_000016.9:g.1616230G>C , CM000678.1:g.1616230G>C	GRCh37
NC_000016.8:g.1556231G>C	NCBI36
NG_032783.1:g.50880C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1833C>G MANE Select	ENSP00000406012.2:p.Val611=
ENST00000397417.6:c.*385C>G	ENSP00000380562.2:n.*385C>G
ENST00000426508.6:c.1833C>G	ENSP00000406012.2:p.Val611=
ENST00000439987.6:n.1894C>G
ENST00000565298.5:n.521C>G
NM_014714.3:c.1833C>G	NP_055529.2:p.Val611=
XM_005255725.3:c.1833C>G	XP_005255782.1:p.Val611=
XM_005255726.2:c.1833C>G	XP_005255783.1:p.Val611=
XM_006720989.2:c.1833C>G	XP_006721052.1:p.Val611=
XM_006720990.2:c.1833C>G	XP_006721053.1:p.Val611=
XM_006720991.2:c.1833C>G	XP_006721054.1:p.Val611=
XM_011522766.1:c.1587C>G	XP_011521068.1:p.Val529=
XM_011522767.1:c.858C>G	XP_011521069.1:p.Val286=
XM_011522768.1:c.1833C>G	XP_011521070.1:p.Val611=
XM_011522769.1:c.1833C>G	XP_011521071.1:p.Val611=
XM_011522771.1:c.1833C>G	XP_011521073.1:p.Val611=
XM_011522772.1:c.1833C>G	XP_011521074.1:p.Val611=
XM_005255725.5:c.1833C>G	XP_005255782.1:p.Val611=
XM_005255726.4:c.1833C>G	XP_005255783.1:p.Val611=
XM_006720990.3:c.1833C>G	XP_006721053.1:p.Val611=
XM_006720991.3:c.1833C>G	XP_006721054.1:p.Val611=
XM_011522766.3:c.1587C>G	XP_011521068.1:p.Val529=
XM_011522767.2:c.858C>G	XP_011521069.1:p.Val286=
XM_011522769.3:c.1833C>G	XP_011521071.1:p.Val611=
XM_011522771.3:c.1833C>G	XP_011521073.1:p.Val611=
XM_011522772.3:c.1833C>G	XP_011521074.1:p.Val611=
XM_017023910.1:c.1833C>G	XP_016879399.1:p.Val611=
XM_017023911.1:c.18C>G	XP_016879400.1:p.Val6=
NM_014714.4:c.1833C>G MANE Select	NP_055529.2:p.Val611=