Canonical Allele Identifier: CA7812777

Gene: IFT140

Linked Data

• dbSNP Id: rs767245111
• ExAC: 16:1560982 T / C
• gnomAD v2: 16-1560982-T-C
• gnomAD v4: 16-1510981-T-C
• COSMIC: COSM368618
• MyVariant Identifiers: chr16:g.1560982T>C (hg19) ; chr16:g.1510981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510981T>C , CM000678.2:g.1510981T>C	GRCh38
NC_000016.9:g.1560982T>C , CM000678.1:g.1560982T>C	GRCh37
NC_000016.8:g.1500983T>C	NCBI36
NG_032783.1:g.106128A>G
NG_050910.1:g.22638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4352A>G MANE Select	ENSP00000406012.2:p.Asp1451Gly
ENST00000361339.9:c.1934A>G	ENSP00000354895.5:p.Asp645Gly
ENST00000397417.6:c.*2790A>G	ENSP00000380562.2:n.*2790A>G
ENST00000426508.6:c.4352A>G	ENSP00000406012.2:p.Asp1451Gly
ENST00000565298.5:n.4176A>G
NM_014714.3:c.4352A>G	NP_055529.2:p.Asp1451Gly
XM_006720989.2:c.4352A>G	XP_006721052.1:p.Asp1451Gly
XM_006720990.2:c.4352A>G	XP_006721053.1:p.Asp1451Gly
XM_006720991.2:c.4352A>G	XP_006721054.1:p.Asp1451Gly
XM_006720992.2:c.1985A>G	XP_006721055.1:p.Asp662Gly
XM_011522766.1:c.4106A>G	XP_011521068.1:p.Asp1369Gly
XM_011522767.1:c.3377A>G	XP_011521069.1:p.Asp1126Gly
XM_006720990.3:c.4352A>G	XP_006721053.1:p.Asp1451Gly
XM_006720991.3:c.4352A>G	XP_006721054.1:p.Asp1451Gly
XM_006720992.3:c.1985A>G	XP_006721055.1:p.Asp662Gly
XM_011522766.3:c.4106A>G	XP_011521068.1:p.Asp1369Gly
XM_011522767.2:c.3377A>G	XP_011521069.1:p.Asp1126Gly
XM_017023910.1:c.4352A>G	XP_016879399.1:p.Asp1451Gly
XM_017023911.1:c.2537A>G	XP_016879400.1:p.Asp846Gly
NM_014714.4:c.4352A>G MANE Select	NP_055529.2:p.Asp1451Gly