Canonical Allele Identifier: CA492931821

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570642C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520641C>G , CM000678.2:g.1520641C>G	GRCh38
NC_000016.9:g.1570642C>G , CM000678.1:g.1570642C>G	GRCh37
NC_000016.8:g.1510643C>G	NCBI36
NG_032783.1:g.96468G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3621G>C MANE Select	ENSP00000406012.2:p.Leu1207=
ENST00000361339.9:c.1203G>C	ENSP00000354895.5:p.Leu401=
ENST00000397417.6:c.*2059G>C	ENSP00000380562.2:n.*2059G>C
ENST00000426508.6:c.3621G>C	ENSP00000406012.2:p.Leu1207=
ENST00000565298.5:n.3445G>C
NM_014714.3:c.3621G>C	NP_055529.2:p.Leu1207=
XM_006720989.2:c.3621G>C	XP_006721052.1:p.Leu1207=
XM_006720990.2:c.3621G>C	XP_006721053.1:p.Leu1207=
XM_006720991.2:c.3621G>C	XP_006721054.1:p.Leu1207=
XM_006720992.2:c.1254G>C	XP_006721055.1:p.Leu418=
XM_011522766.1:c.3375G>C	XP_011521068.1:p.Leu1125=
XM_011522767.1:c.2646G>C	XP_011521069.1:p.Leu882=
XM_006720990.3:c.3621G>C	XP_006721053.1:p.Leu1207=
XM_006720991.3:c.3621G>C	XP_006721054.1:p.Leu1207=
XM_006720992.3:c.1254G>C	XP_006721055.1:p.Leu418=
XM_011522766.3:c.3375G>C	XP_011521068.1:p.Leu1125=
XM_011522767.2:c.2646G>C	XP_011521069.1:p.Leu882=
XM_017023910.1:c.3621G>C	XP_016879399.1:p.Leu1207=
XM_017023911.1:c.1806G>C	XP_016879400.1:p.Leu602=
NM_014714.4:c.3621G>C MANE Select	NP_055529.2:p.Leu1207=