Canonical Allele Identifier: CA394225341

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1573616T>G (hg19) ; chr16:g.1523615T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523615T>G , CM000678.2:g.1523615T>G	GRCh38
NC_000016.9:g.1573616T>G , CM000678.1:g.1573616T>G	GRCh37
NC_000016.8:g.1513617T>G	NCBI36
NG_032783.1:g.93494A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3356A>C MANE Select	ENSP00000406012.2:p.Glu1119Ala
ENST00000361339.9:c.938A>C	ENSP00000354895.5:p.Glu313Ala
ENST00000397417.6:c.*1794A>C	ENSP00000380562.2:n.*1794A>C
ENST00000426508.6:c.3356A>C	ENSP00000406012.2:p.Glu1119Ala
ENST00000565298.5:n.3180A>C
NM_014714.3:c.3356A>C	NP_055529.2:p.Glu1119Ala
XM_006720989.2:c.3356A>C	XP_006721052.1:p.Glu1119Ala
XM_006720990.2:c.3356A>C	XP_006721053.1:p.Glu1119Ala
XM_006720991.2:c.3356A>C	XP_006721054.1:p.Glu1119Ala
XM_006720992.2:c.989A>C	XP_006721055.1:p.Glu330Ala
XM_011522766.1:c.3110A>C	XP_011521068.1:p.Glu1037Ala
XM_011522767.1:c.2381A>C	XP_011521069.1:p.Glu794Ala
XM_006720990.3:c.3356A>C	XP_006721053.1:p.Glu1119Ala
XM_006720991.3:c.3356A>C	XP_006721054.1:p.Glu1119Ala
XM_006720992.3:c.989A>C	XP_006721055.1:p.Glu330Ala
XM_011522766.3:c.3110A>C	XP_011521068.1:p.Glu1037Ala
XM_011522767.2:c.2381A>C	XP_011521069.1:p.Glu794Ala
XM_017023910.1:c.3356A>C	XP_016879399.1:p.Glu1119Ala
XM_017023911.1:c.1541A>C	XP_016879400.1:p.Glu514Ala
NM_014714.4:c.3356A>C MANE Select	NP_055529.2:p.Glu1119Ala