Canonical Allele Identifier: CA493031326

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1560957A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510956A>G , CM000678.2:g.1510956A>G	GRCh38
NC_000016.9:g.1560957A>G , CM000678.1:g.1560957A>G	GRCh37
NC_000016.8:g.1500958A>G	NCBI36
NG_032783.1:g.106153T>C
NG_050910.1:g.22613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4377T>C MANE Select	ENSP00000406012.2:p.Asp1459=
ENST00000361339.9:c.1959T>C	ENSP00000354895.5:p.Asp653=
ENST00000397417.6:c.*2815T>C	ENSP00000380562.2:n.*2815T>C
ENST00000426508.6:c.4377T>C	ENSP00000406012.2:p.Asp1459=
ENST00000565298.5:n.4201T>C
NM_014714.3:c.4377T>C	NP_055529.2:p.Asp1459=
XM_006720989.2:c.4377T>C	XP_006721052.1:p.Asp1459=
XM_006720990.2:c.4377T>C	XP_006721053.1:p.Asp1459=
XM_006720991.2:c.4377T>C	XP_006721054.1:p.Asp1459=
XM_006720992.2:c.2010T>C	XP_006721055.1:p.Asp670=
XM_011522766.1:c.4131T>C	XP_011521068.1:p.Asp1377=
XM_011522767.1:c.3402T>C	XP_011521069.1:p.Asp1134=
XM_006720990.3:c.4377T>C	XP_006721053.1:p.Asp1459=
XM_006720991.3:c.4377T>C	XP_006721054.1:p.Asp1459=
XM_006720992.3:c.2010T>C	XP_006721055.1:p.Asp670=
XM_011522766.3:c.4131T>C	XP_011521068.1:p.Asp1377=
XM_011522767.2:c.3402T>C	XP_011521069.1:p.Asp1134=
XM_017023910.1:c.4377T>C	XP_016879399.1:p.Asp1459=
XM_017023911.1:c.2562T>C	XP_016879400.1:p.Asp854=
NM_014714.4:c.4377T>C MANE Select	NP_055529.2:p.Asp1459=