Canonical Allele Identifier: CA394224891

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570704A>G (hg19) ; chr16:g.1520703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520703A>G , CM000678.2:g.1520703A>G	GRCh38
NC_000016.9:g.1570704A>G , CM000678.1:g.1570704A>G	GRCh37
NC_000016.8:g.1510705A>G	NCBI36
NG_032783.1:g.96406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3559T>C MANE Select	ENSP00000406012.2:p.Ser1187Pro
ENST00000361339.9:c.1141T>C	ENSP00000354895.5:p.Ser381Pro
ENST00000397417.6:c.*1997T>C	ENSP00000380562.2:n.*1997T>C
ENST00000426508.6:c.3559T>C	ENSP00000406012.2:p.Ser1187Pro
ENST00000565298.5:n.3383T>C
NM_014714.3:c.3559T>C	NP_055529.2:p.Ser1187Pro
XM_006720989.2:c.3559T>C	XP_006721052.1:p.Ser1187Pro
XM_006720990.2:c.3559T>C	XP_006721053.1:p.Ser1187Pro
XM_006720991.2:c.3559T>C	XP_006721054.1:p.Ser1187Pro
XM_006720992.2:c.1192T>C	XP_006721055.1:p.Ser398Pro
XM_011522766.1:c.3313T>C	XP_011521068.1:p.Ser1105Pro
XM_011522767.1:c.2584T>C	XP_011521069.1:p.Ser862Pro
XM_006720990.3:c.3559T>C	XP_006721053.1:p.Ser1187Pro
XM_006720991.3:c.3559T>C	XP_006721054.1:p.Ser1187Pro
XM_006720992.3:c.1192T>C	XP_006721055.1:p.Ser398Pro
XM_011522766.3:c.3313T>C	XP_011521068.1:p.Ser1105Pro
XM_011522767.2:c.2584T>C	XP_011521069.1:p.Ser862Pro
XM_017023910.1:c.3559T>C	XP_016879399.1:p.Ser1187Pro
XM_017023911.1:c.1744T>C	XP_016879400.1:p.Ser582Pro
NM_014714.4:c.3559T>C MANE Select	NP_055529.2:p.Ser1187Pro