Canonical Allele Identifier: CA493031904

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1573618A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523617A>G , CM000678.2:g.1523617A>G	GRCh38
NC_000016.9:g.1573618A>G , CM000678.1:g.1573618A>G	GRCh37
NC_000016.8:g.1513619A>G	NCBI36
NG_032783.1:g.93492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3354T>C MANE Select	ENSP00000406012.2:p.Asp1118=
ENST00000361339.9:c.936T>C	ENSP00000354895.5:p.Asp312=
ENST00000397417.6:c.*1792T>C	ENSP00000380562.2:n.*1792T>C
ENST00000426508.6:c.3354T>C	ENSP00000406012.2:p.Asp1118=
ENST00000565298.5:n.3178T>C
NM_014714.3:c.3354T>C	NP_055529.2:p.Asp1118=
XM_006720989.2:c.3354T>C	XP_006721052.1:p.Asp1118=
XM_006720990.2:c.3354T>C	XP_006721053.1:p.Asp1118=
XM_006720991.2:c.3354T>C	XP_006721054.1:p.Asp1118=
XM_006720992.2:c.987T>C	XP_006721055.1:p.Asp329=
XM_011522766.1:c.3108T>C	XP_011521068.1:p.Asp1036=
XM_011522767.1:c.2379T>C	XP_011521069.1:p.Asp793=
XM_006720990.3:c.3354T>C	XP_006721053.1:p.Asp1118=
XM_006720991.3:c.3354T>C	XP_006721054.1:p.Asp1118=
XM_006720992.3:c.987T>C	XP_006721055.1:p.Asp329=
XM_011522766.3:c.3108T>C	XP_011521068.1:p.Asp1036=
XM_011522767.2:c.2379T>C	XP_011521069.1:p.Asp793=
XM_017023910.1:c.3354T>C	XP_016879399.1:p.Asp1118=
XM_017023911.1:c.1539T>C	XP_016879400.1:p.Asp513=
NM_014714.4:c.3354T>C MANE Select	NP_055529.2:p.Asp1118=