Canonical Allele Identifier: CA394224832

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570670C>A (hg19) ; chr16:g.1520669C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520669C>A , CM000678.2:g.1520669C>A	GRCh38
NC_000016.9:g.1570670C>A , CM000678.1:g.1570670C>A	GRCh37
NC_000016.8:g.1510671C>A	NCBI36
NG_032783.1:g.96440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3593G>T MANE Select	ENSP00000406012.2:p.Cys1198Phe
ENST00000361339.9:c.1175G>T	ENSP00000354895.5:p.Cys392Phe
ENST00000397417.6:c.*2031G>T	ENSP00000380562.2:n.*2031G>T
ENST00000426508.6:c.3593G>T	ENSP00000406012.2:p.Cys1198Phe
ENST00000565298.5:n.3417G>T
NM_014714.3:c.3593G>T	NP_055529.2:p.Cys1198Phe
XM_006720989.2:c.3593G>T	XP_006721052.1:p.Cys1198Phe
XM_006720990.2:c.3593G>T	XP_006721053.1:p.Cys1198Phe
XM_006720991.2:c.3593G>T	XP_006721054.1:p.Cys1198Phe
XM_006720992.2:c.1226G>T	XP_006721055.1:p.Cys409Phe
XM_011522766.1:c.3347G>T	XP_011521068.1:p.Cys1116Phe
XM_011522767.1:c.2618G>T	XP_011521069.1:p.Cys873Phe
XM_006720990.3:c.3593G>T	XP_006721053.1:p.Cys1198Phe
XM_006720991.3:c.3593G>T	XP_006721054.1:p.Cys1198Phe
XM_006720992.3:c.1226G>T	XP_006721055.1:p.Cys409Phe
XM_011522766.3:c.3347G>T	XP_011521068.1:p.Cys1116Phe
XM_011522767.2:c.2618G>T	XP_011521069.1:p.Cys873Phe
XM_017023910.1:c.3593G>T	XP_016879399.1:p.Cys1198Phe
XM_017023911.1:c.1778G>T	XP_016879400.1:p.Cys593Phe
NM_014714.4:c.3593G>T MANE Select	NP_055529.2:p.Cys1198Phe