Canonical Allele Identifier: CA493031854

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1965305
• ClinVar RCV Id: RCV002726707
• dbSNP Id: rs1478734815
• gnomAD v2: 16-1573597-G-T
• gnomAD v4: 16-1523596-G-T
• MyVariant Identifiers: chr16:g.1573597G>T (hg19) ; chr16:g.1523596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523596G>T , CM000678.2:g.1523596G>T	GRCh38
NC_000016.9:g.1573597G>T , CM000678.1:g.1573597G>T	GRCh37
NC_000016.8:g.1513598G>T	NCBI36
NG_032783.1:g.93513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3375C>A MANE Select	ENSP00000406012.2:p.Leu1125=
ENST00000361339.9:c.957C>A	ENSP00000354895.5:p.Leu319=
ENST00000397417.6:c.*1813C>A	ENSP00000380562.2:n.*1813C>A
ENST00000426508.6:c.3375C>A	ENSP00000406012.2:p.Leu1125=
ENST00000565298.5:n.3199C>A
NM_014714.3:c.3375C>A	NP_055529.2:p.Leu1125=
XM_006720989.2:c.3375C>A	XP_006721052.1:p.Leu1125=
XM_006720990.2:c.3375C>A	XP_006721053.1:p.Leu1125=
XM_006720991.2:c.3375C>A	XP_006721054.1:p.Leu1125=
XM_006720992.2:c.1008C>A	XP_006721055.1:p.Leu336=
XM_011522766.1:c.3129C>A	XP_011521068.1:p.Leu1043=
XM_011522767.1:c.2400C>A	XP_011521069.1:p.Leu800=
XM_006720990.3:c.3375C>A	XP_006721053.1:p.Leu1125=
XM_006720991.3:c.3375C>A	XP_006721054.1:p.Leu1125=
XM_006720992.3:c.1008C>A	XP_006721055.1:p.Leu336=
XM_011522766.3:c.3129C>A	XP_011521068.1:p.Leu1043=
XM_011522767.2:c.2400C>A	XP_011521069.1:p.Leu800=
XM_017023910.1:c.3375C>A	XP_016879399.1:p.Leu1125=
XM_017023911.1:c.1560C>A	XP_016879400.1:p.Leu520=
NM_014714.4:c.3375C>A MANE Select	NP_055529.2:p.Leu1125=