Canonical Allele Identifier: CA394222547

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1561132T>G (hg19) ; chr16:g.1511131T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511131T>G , CM000678.2:g.1511131T>G	GRCh38
NC_000016.9:g.1561132T>G , CM000678.1:g.1561132T>G	GRCh37
NC_000016.8:g.1501133T>G	NCBI36
NG_032783.1:g.105978A>C
NG_050910.1:g.22788T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4202A>C MANE Select	ENSP00000406012.2:p.Glu1401Ala
ENST00000361339.9:c.1784A>C	ENSP00000354895.5:p.Glu595Ala
ENST00000397417.6:c.*2640A>C	ENSP00000380562.2:n.*2640A>C
ENST00000426508.6:c.4202A>C	ENSP00000406012.2:p.Glu1401Ala
ENST00000565298.5:n.4026A>C
NM_014714.3:c.4202A>C	NP_055529.2:p.Glu1401Ala
XM_006720989.2:c.4202A>C	XP_006721052.1:p.Glu1401Ala
XM_006720990.2:c.4202A>C	XP_006721053.1:p.Glu1401Ala
XM_006720991.2:c.4202A>C	XP_006721054.1:p.Glu1401Ala
XM_006720992.2:c.1835A>C	XP_006721055.1:p.Glu612Ala
XM_011522766.1:c.3956A>C	XP_011521068.1:p.Glu1319Ala
XM_011522767.1:c.3227A>C	XP_011521069.1:p.Glu1076Ala
XM_006720990.3:c.4202A>C	XP_006721053.1:p.Glu1401Ala
XM_006720991.3:c.4202A>C	XP_006721054.1:p.Glu1401Ala
XM_006720992.3:c.1835A>C	XP_006721055.1:p.Glu612Ala
XM_011522766.3:c.3956A>C	XP_011521068.1:p.Glu1319Ala
XM_011522767.2:c.3227A>C	XP_011521069.1:p.Glu1076Ala
XM_017023910.1:c.4202A>C	XP_016879399.1:p.Glu1401Ala
XM_017023911.1:c.2387A>C	XP_016879400.1:p.Glu796Ala
NM_014714.4:c.4202A>C MANE Select	NP_055529.2:p.Glu1401Ala