Canonical Allele Identifier: CA394222462

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1561090A>C (hg19) ; chr16:g.1511089A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511089A>C , CM000678.2:g.1511089A>C	GRCh38
NC_000016.9:g.1561090A>C , CM000678.1:g.1561090A>C	GRCh37
NC_000016.8:g.1501091A>C	NCBI36
NG_032783.1:g.106020T>G
NG_050910.1:g.22746A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4244T>G MANE Select	ENSP00000406012.2:p.Val1415Gly
ENST00000361339.9:c.1826T>G	ENSP00000354895.5:p.Val609Gly
ENST00000397417.6:c.*2682T>G	ENSP00000380562.2:n.*2682T>G
ENST00000426508.6:c.4244T>G	ENSP00000406012.2:p.Val1415Gly
ENST00000565298.5:n.4068T>G
NM_014714.3:c.4244T>G	NP_055529.2:p.Val1415Gly
XM_006720989.2:c.4244T>G	XP_006721052.1:p.Val1415Gly
XM_006720990.2:c.4244T>G	XP_006721053.1:p.Val1415Gly
XM_006720991.2:c.4244T>G	XP_006721054.1:p.Val1415Gly
XM_006720992.2:c.1877T>G	XP_006721055.1:p.Val626Gly
XM_011522766.1:c.3998T>G	XP_011521068.1:p.Val1333Gly
XM_011522767.1:c.3269T>G	XP_011521069.1:p.Val1090Gly
XM_006720990.3:c.4244T>G	XP_006721053.1:p.Val1415Gly
XM_006720991.3:c.4244T>G	XP_006721054.1:p.Val1415Gly
XM_006720992.3:c.1877T>G	XP_006721055.1:p.Val626Gly
XM_011522766.3:c.3998T>G	XP_011521068.1:p.Val1333Gly
XM_011522767.2:c.3269T>G	XP_011521069.1:p.Val1090Gly
XM_017023910.1:c.4244T>G	XP_016879399.1:p.Val1415Gly
XM_017023911.1:c.2429T>G	XP_016879400.1:p.Val810Gly
NM_014714.4:c.4244T>G MANE Select	NP_055529.2:p.Val1415Gly