Canonical Allele Identifier: CA7813201

Gene: IFT140

Linked Data

• ClinVar Variation Id: 533866
• ClinVar RCV Id: RCV000641164
• dbSNP Id: rs372114503
• ExAC: 16:1573636 G / A
• gnomAD v2: 16-1573636-G-A
• gnomAD v3: 16-1523635-G-A
• gnomAD v4: 16-1523635-G-A
• MyVariant Identifiers: chr16:g.1573636G>A (hg19) ; chr16:g.1523635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523635G>A , CM000678.2:g.1523635G>A	GRCh38
NC_000016.9:g.1573636G>A , CM000678.1:g.1573636G>A	GRCh37
NC_000016.8:g.1513637G>A	NCBI36
NG_032783.1:g.93474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3336C>T MANE Select	ENSP00000406012.2:p.Leu1112=
ENST00000361339.9:c.918C>T	ENSP00000354895.5:p.Leu306=
ENST00000397417.6:c.*1774C>T	ENSP00000380562.2:n.*1774C>T
ENST00000426508.6:c.3336C>T	ENSP00000406012.2:p.Leu1112=
ENST00000565298.5:n.3160C>T
NM_014714.3:c.3336C>T	NP_055529.2:p.Leu1112=
XM_006720989.2:c.3336C>T	XP_006721052.1:p.Leu1112=
XM_006720990.2:c.3336C>T	XP_006721053.1:p.Leu1112=
XM_006720991.2:c.3336C>T	XP_006721054.1:p.Leu1112=
XM_006720992.2:c.969C>T	XP_006721055.1:p.Leu323=
XM_011522766.1:c.3090C>T	XP_011521068.1:p.Leu1030=
XM_011522767.1:c.2361C>T	XP_011521069.1:p.Leu787=
XM_006720990.3:c.3336C>T	XP_006721053.1:p.Leu1112=
XM_006720991.3:c.3336C>T	XP_006721054.1:p.Leu1112=
XM_006720992.3:c.969C>T	XP_006721055.1:p.Leu323=
XM_011522766.3:c.3090C>T	XP_011521068.1:p.Leu1030=
XM_011522767.2:c.2361C>T	XP_011521069.1:p.Leu787=
XM_017023910.1:c.3336C>T	XP_016879399.1:p.Leu1112=
XM_017023911.1:c.1521C>T	XP_016879400.1:p.Leu507=
NM_014714.4:c.3336C>T MANE Select	NP_055529.2:p.Leu1112=