Canonical Allele Identifier: CA394225422

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1573654C>A (hg19) ; chr16:g.1523653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523653C>A , CM000678.2:g.1523653C>A	GRCh38
NC_000016.9:g.1573654C>A , CM000678.1:g.1573654C>A	GRCh37
NC_000016.8:g.1513655C>A	NCBI36
NG_032783.1:g.93456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3318G>T MANE Select	ENSP00000406012.2:p.Gln1106His
ENST00000361339.9:c.900G>T	ENSP00000354895.5:p.Gln300His
ENST00000397417.6:c.*1756G>T	ENSP00000380562.2:n.*1756G>T
ENST00000426508.6:c.3318G>T	ENSP00000406012.2:p.Gln1106His
ENST00000565298.5:n.3142G>T
NM_014714.3:c.3318G>T	NP_055529.2:p.Gln1106His
XM_006720989.2:c.3318G>T	XP_006721052.1:p.Gln1106His
XM_006720990.2:c.3318G>T	XP_006721053.1:p.Gln1106His
XM_006720991.2:c.3318G>T	XP_006721054.1:p.Gln1106His
XM_006720992.2:c.951G>T	XP_006721055.1:p.Gln317His
XM_011522766.1:c.3072G>T	XP_011521068.1:p.Gln1024His
XM_011522767.1:c.2343G>T	XP_011521069.1:p.Gln781His
XM_006720990.3:c.3318G>T	XP_006721053.1:p.Gln1106His
XM_006720991.3:c.3318G>T	XP_006721054.1:p.Gln1106His
XM_006720992.3:c.951G>T	XP_006721055.1:p.Gln317His
XM_011522766.3:c.3072G>T	XP_011521068.1:p.Gln1024His
XM_011522767.2:c.2343G>T	XP_011521069.1:p.Gln781His
XM_017023910.1:c.3318G>T	XP_016879399.1:p.Gln1106His
XM_017023911.1:c.1503G>T	XP_016879400.1:p.Gln501His
NM_014714.4:c.3318G>T MANE Select	NP_055529.2:p.Gln1106His