Canonical Allele Identifier: CA394224941

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570727T>C (hg19) ; chr16:g.1520726T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520726T>C , CM000678.2:g.1520726T>C	GRCh38
NC_000016.9:g.1570727T>C , CM000678.1:g.1570727T>C	GRCh37
NC_000016.8:g.1510728T>C	NCBI36
NG_032783.1:g.96383A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3536A>G MANE Select	ENSP00000406012.2:p.Asp1179Gly
ENST00000361339.9:c.1118A>G	ENSP00000354895.5:p.Asp373Gly
ENST00000397417.6:c.*1974A>G	ENSP00000380562.2:n.*1974A>G
ENST00000426508.6:c.3536A>G	ENSP00000406012.2:p.Asp1179Gly
ENST00000565298.5:n.3360A>G
NM_014714.3:c.3536A>G	NP_055529.2:p.Asp1179Gly
XM_006720989.2:c.3536A>G	XP_006721052.1:p.Asp1179Gly
XM_006720990.2:c.3536A>G	XP_006721053.1:p.Asp1179Gly
XM_006720991.2:c.3536A>G	XP_006721054.1:p.Asp1179Gly
XM_006720992.2:c.1169A>G	XP_006721055.1:p.Asp390Gly
XM_011522766.1:c.3290A>G	XP_011521068.1:p.Asp1097Gly
XM_011522767.1:c.2561A>G	XP_011521069.1:p.Asp854Gly
XM_006720990.3:c.3536A>G	XP_006721053.1:p.Asp1179Gly
XM_006720991.3:c.3536A>G	XP_006721054.1:p.Asp1179Gly
XM_006720992.3:c.1169A>G	XP_006721055.1:p.Asp390Gly
XM_011522766.3:c.3290A>G	XP_011521068.1:p.Asp1097Gly
XM_011522767.2:c.2561A>G	XP_011521069.1:p.Asp854Gly
XM_017023910.1:c.3536A>G	XP_016879399.1:p.Asp1179Gly
XM_017023911.1:c.1721A>G	XP_016879400.1:p.Asp574Gly
NM_014714.4:c.3536A>G MANE Select	NP_055529.2:p.Asp1179Gly