Canonical Allele Identifier: CA394224913

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520712-G-T
• MyVariant Identifiers: chr16:g.1570713G>T (hg19) ; chr16:g.1520712G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520712G>T , CM000678.2:g.1520712G>T	GRCh38
NC_000016.9:g.1570713G>T , CM000678.1:g.1570713G>T	GRCh37
NC_000016.8:g.1510714G>T	NCBI36
NG_032783.1:g.96397C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3550C>A MANE Select	ENSP00000406012.2:p.Pro1184Thr
ENST00000361339.9:c.1132C>A	ENSP00000354895.5:p.Pro378Thr
ENST00000397417.6:c.*1988C>A	ENSP00000380562.2:n.*1988C>A
ENST00000426508.6:c.3550C>A	ENSP00000406012.2:p.Pro1184Thr
ENST00000565298.5:n.3374C>A
NM_014714.3:c.3550C>A	NP_055529.2:p.Pro1184Thr
XM_006720989.2:c.3550C>A	XP_006721052.1:p.Pro1184Thr
XM_006720990.2:c.3550C>A	XP_006721053.1:p.Pro1184Thr
XM_006720991.2:c.3550C>A	XP_006721054.1:p.Pro1184Thr
XM_006720992.2:c.1183C>A	XP_006721055.1:p.Pro395Thr
XM_011522766.1:c.3304C>A	XP_011521068.1:p.Pro1102Thr
XM_011522767.1:c.2575C>A	XP_011521069.1:p.Pro859Thr
XM_006720990.3:c.3550C>A	XP_006721053.1:p.Pro1184Thr
XM_006720991.3:c.3550C>A	XP_006721054.1:p.Pro1184Thr
XM_006720992.3:c.1183C>A	XP_006721055.1:p.Pro395Thr
XM_011522766.3:c.3304C>A	XP_011521068.1:p.Pro1102Thr
XM_011522767.2:c.2575C>A	XP_011521069.1:p.Pro859Thr
XM_017023910.1:c.3550C>A	XP_016879399.1:p.Pro1184Thr
XM_017023911.1:c.1735C>A	XP_016879400.1:p.Pro579Thr
NM_014714.4:c.3550C>A MANE Select	NP_055529.2:p.Pro1184Thr