Canonical Allele Identifier: CA394222306

Gene: IFT140

Linked Data

• gnomAD v4: 16-1511005-C-T
• MyVariant Identifiers: chr16:g.1561006C>T (hg19) ; chr16:g.1511005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511005C>T , CM000678.2:g.1511005C>T	GRCh38
NC_000016.9:g.1561006C>T , CM000678.1:g.1561006C>T	GRCh37
NC_000016.8:g.1501007C>T	NCBI36
NG_032783.1:g.106104G>A
NG_050910.1:g.22662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4328G>A MANE Select	ENSP00000406012.2:p.Ser1443Asn
ENST00000361339.9:c.1910G>A	ENSP00000354895.5:p.Ser637Asn
ENST00000397417.6:c.*2766G>A	ENSP00000380562.2:n.*2766G>A
ENST00000426508.6:c.4328G>A	ENSP00000406012.2:p.Ser1443Asn
ENST00000565298.5:n.4152G>A
NM_014714.3:c.4328G>A	NP_055529.2:p.Ser1443Asn
XM_006720989.2:c.4328G>A	XP_006721052.1:p.Ser1443Asn
XM_006720990.2:c.4328G>A	XP_006721053.1:p.Ser1443Asn
XM_006720991.2:c.4328G>A	XP_006721054.1:p.Ser1443Asn
XM_006720992.2:c.1961G>A	XP_006721055.1:p.Ser654Asn
XM_011522766.1:c.4082G>A	XP_011521068.1:p.Ser1361Asn
XM_011522767.1:c.3353G>A	XP_011521069.1:p.Ser1118Asn
XM_006720990.3:c.4328G>A	XP_006721053.1:p.Ser1443Asn
XM_006720991.3:c.4328G>A	XP_006721054.1:p.Ser1443Asn
XM_006720992.3:c.1961G>A	XP_006721055.1:p.Ser654Asn
XM_011522766.3:c.4082G>A	XP_011521068.1:p.Ser1361Asn
XM_011522767.2:c.3353G>A	XP_011521069.1:p.Ser1118Asn
XM_017023910.1:c.4328G>A	XP_016879399.1:p.Ser1443Asn
XM_017023911.1:c.2513G>A	XP_016879400.1:p.Ser838Asn
NM_014714.4:c.4328G>A MANE Select	NP_055529.2:p.Ser1443Asn