Canonical Allele Identifier: CA394222563

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1561140G>C (hg19) ; chr16:g.1511139G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511139G>C , CM000678.2:g.1511139G>C	GRCh38
NC_000016.9:g.1561140G>C , CM000678.1:g.1561140G>C	GRCh37
NC_000016.8:g.1501141G>C	NCBI36
NG_032783.1:g.105970C>G
NG_050910.1:g.22796G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4194C>G MANE Select	ENSP00000406012.2:p.Phe1398Leu
ENST00000361339.9:c.1776C>G	ENSP00000354895.5:p.Phe592Leu
ENST00000397417.6:c.*2632C>G	ENSP00000380562.2:n.*2632C>G
ENST00000426508.6:c.4194C>G	ENSP00000406012.2:p.Phe1398Leu
ENST00000565298.5:n.4018C>G
NM_014714.3:c.4194C>G	NP_055529.2:p.Phe1398Leu
XM_006720989.2:c.4194C>G	XP_006721052.1:p.Phe1398Leu
XM_006720990.2:c.4194C>G	XP_006721053.1:p.Phe1398Leu
XM_006720991.2:c.4194C>G	XP_006721054.1:p.Phe1398Leu
XM_006720992.2:c.1827C>G	XP_006721055.1:p.Phe609Leu
XM_011522766.1:c.3948C>G	XP_011521068.1:p.Phe1316Leu
XM_011522767.1:c.3219C>G	XP_011521069.1:p.Phe1073Leu
XM_006720990.3:c.4194C>G	XP_006721053.1:p.Phe1398Leu
XM_006720991.3:c.4194C>G	XP_006721054.1:p.Phe1398Leu
XM_006720992.3:c.1827C>G	XP_006721055.1:p.Phe609Leu
XM_011522766.3:c.3948C>G	XP_011521068.1:p.Phe1316Leu
XM_011522767.2:c.3219C>G	XP_011521069.1:p.Phe1073Leu
XM_017023910.1:c.4194C>G	XP_016879399.1:p.Phe1398Leu
XM_017023911.1:c.2379C>G	XP_016879400.1:p.Phe793Leu
NM_014714.4:c.4194C>G MANE Select	NP_055529.2:p.Phe1398Leu