Canonical Allele Identifier: CA394222565

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1561141A>T (hg19) ; chr16:g.1511140A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511140A>T , CM000678.2:g.1511140A>T	GRCh38
NC_000016.9:g.1561141A>T , CM000678.1:g.1561141A>T	GRCh37
NC_000016.8:g.1501142A>T	NCBI36
NG_032783.1:g.105969T>A
NG_050910.1:g.22797A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4193T>A MANE Select	ENSP00000406012.2:p.Phe1398Tyr
ENST00000361339.9:c.1775T>A	ENSP00000354895.5:p.Phe592Tyr
ENST00000397417.6:c.*2631T>A	ENSP00000380562.2:n.*2631T>A
ENST00000426508.6:c.4193T>A	ENSP00000406012.2:p.Phe1398Tyr
ENST00000565298.5:n.4017T>A
NM_014714.3:c.4193T>A	NP_055529.2:p.Phe1398Tyr
XM_006720989.2:c.4193T>A	XP_006721052.1:p.Phe1398Tyr
XM_006720990.2:c.4193T>A	XP_006721053.1:p.Phe1398Tyr
XM_006720991.2:c.4193T>A	XP_006721054.1:p.Phe1398Tyr
XM_006720992.2:c.1826T>A	XP_006721055.1:p.Phe609Tyr
XM_011522766.1:c.3947T>A	XP_011521068.1:p.Phe1316Tyr
XM_011522767.1:c.3218T>A	XP_011521069.1:p.Phe1073Tyr
XM_006720990.3:c.4193T>A	XP_006721053.1:p.Phe1398Tyr
XM_006720991.3:c.4193T>A	XP_006721054.1:p.Phe1398Tyr
XM_006720992.3:c.1826T>A	XP_006721055.1:p.Phe609Tyr
XM_011522766.3:c.3947T>A	XP_011521068.1:p.Phe1316Tyr
XM_011522767.2:c.3218T>A	XP_011521069.1:p.Phe1073Tyr
XM_017023910.1:c.4193T>A	XP_016879399.1:p.Phe1398Tyr
XM_017023911.1:c.2378T>A	XP_016879400.1:p.Phe793Tyr
NM_014714.4:c.4193T>A MANE Select	NP_055529.2:p.Phe1398Tyr