Canonical Allele Identifier: CA394222250

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1560981G>C (hg19) ; chr16:g.1510980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510980G>C , CM000678.2:g.1510980G>C	GRCh38
NC_000016.9:g.1560981G>C , CM000678.1:g.1560981G>C	GRCh37
NC_000016.8:g.1500982G>C	NCBI36
NG_032783.1:g.106129C>G
NG_050910.1:g.22637G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4353C>G MANE Select	ENSP00000406012.2:p.Asp1451Glu
ENST00000361339.9:c.1935C>G	ENSP00000354895.5:p.Asp645Glu
ENST00000397417.6:c.*2791C>G	ENSP00000380562.2:n.*2791C>G
ENST00000426508.6:c.4353C>G	ENSP00000406012.2:p.Asp1451Glu
ENST00000565298.5:n.4177C>G
NM_014714.3:c.4353C>G	NP_055529.2:p.Asp1451Glu
XM_006720989.2:c.4353C>G	XP_006721052.1:p.Asp1451Glu
XM_006720990.2:c.4353C>G	XP_006721053.1:p.Asp1451Glu
XM_006720991.2:c.4353C>G	XP_006721054.1:p.Asp1451Glu
XM_006720992.2:c.1986C>G	XP_006721055.1:p.Asp662Glu
XM_011522766.1:c.4107C>G	XP_011521068.1:p.Asp1369Glu
XM_011522767.1:c.3378C>G	XP_011521069.1:p.Asp1126Glu
XM_006720990.3:c.4353C>G	XP_006721053.1:p.Asp1451Glu
XM_006720991.3:c.4353C>G	XP_006721054.1:p.Asp1451Glu
XM_006720992.3:c.1986C>G	XP_006721055.1:p.Asp662Glu
XM_011522766.3:c.4107C>G	XP_011521068.1:p.Asp1369Glu
XM_011522767.2:c.3378C>G	XP_011521069.1:p.Asp1126Glu
XM_017023910.1:c.4353C>G	XP_016879399.1:p.Asp1451Glu
XM_017023911.1:c.2538C>G	XP_016879400.1:p.Asp846Glu
NM_014714.4:c.4353C>G MANE Select	NP_055529.2:p.Asp1451Glu