Canonical Allele Identifier: CA394224990

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570749C>G (hg19) ; chr16:g.1520748C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520748C>G , CM000678.2:g.1520748C>G	GRCh38
NC_000016.9:g.1570749C>G , CM000678.1:g.1570749C>G	GRCh37
NC_000016.8:g.1510750C>G	NCBI36
NG_032783.1:g.96361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3514G>C MANE Select	ENSP00000406012.2:p.Glu1172Gln
ENST00000361339.9:c.1096G>C	ENSP00000354895.5:p.Glu366Gln
ENST00000397417.6:c.*1952G>C	ENSP00000380562.2:n.*1952G>C
ENST00000426508.6:c.3514G>C	ENSP00000406012.2:p.Glu1172Gln
ENST00000565298.5:n.3338G>C
NM_014714.3:c.3514G>C	NP_055529.2:p.Glu1172Gln
XM_006720989.2:c.3514G>C	XP_006721052.1:p.Glu1172Gln
XM_006720990.2:c.3514G>C	XP_006721053.1:p.Glu1172Gln
XM_006720991.2:c.3514G>C	XP_006721054.1:p.Glu1172Gln
XM_006720992.2:c.1147G>C	XP_006721055.1:p.Glu383Gln
XM_011522766.1:c.3268G>C	XP_011521068.1:p.Glu1090Gln
XM_011522767.1:c.2539G>C	XP_011521069.1:p.Glu847Gln
XM_006720990.3:c.3514G>C	XP_006721053.1:p.Glu1172Gln
XM_006720991.3:c.3514G>C	XP_006721054.1:p.Glu1172Gln
XM_006720992.3:c.1147G>C	XP_006721055.1:p.Glu383Gln
XM_011522766.3:c.3268G>C	XP_011521068.1:p.Glu1090Gln
XM_011522767.2:c.2539G>C	XP_011521069.1:p.Glu847Gln
XM_017023910.1:c.3514G>C	XP_016879399.1:p.Glu1172Gln
XM_017023911.1:c.1699G>C	XP_016879400.1:p.Glu567Gln
NM_014714.4:c.3514G>C MANE Select	NP_055529.2:p.Glu1172Gln