Canonical Allele Identifier: CA394222533

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2749032
• ClinVar RCV Id: RCV003531143
• gnomAD v4: 16-1511125-C-A
• MyVariant Identifiers: chr16:g.1561126C>A (hg19) ; chr16:g.1511125C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511125C>A , CM000678.2:g.1511125C>A	GRCh38
NC_000016.9:g.1561126C>A , CM000678.1:g.1561126C>A	GRCh37
NC_000016.8:g.1501127C>A	NCBI36
NG_032783.1:g.105984G>T
NG_050910.1:g.22782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4208G>T MANE Select	ENSP00000406012.2:p.Arg1403Leu
ENST00000361339.9:c.1790G>T	ENSP00000354895.5:p.Arg597Leu
ENST00000397417.6:c.*2646G>T	ENSP00000380562.2:n.*2646G>T
ENST00000426508.6:c.4208G>T	ENSP00000406012.2:p.Arg1403Leu
ENST00000565298.5:n.4032G>T
NM_014714.3:c.4208G>T	NP_055529.2:p.Arg1403Leu
XM_006720989.2:c.4208G>T	XP_006721052.1:p.Arg1403Leu
XM_006720990.2:c.4208G>T	XP_006721053.1:p.Arg1403Leu
XM_006720991.2:c.4208G>T	XP_006721054.1:p.Arg1403Leu
XM_006720992.2:c.1841G>T	XP_006721055.1:p.Arg614Leu
XM_011522766.1:c.3962G>T	XP_011521068.1:p.Arg1321Leu
XM_011522767.1:c.3233G>T	XP_011521069.1:p.Arg1078Leu
XM_006720990.3:c.4208G>T	XP_006721053.1:p.Arg1403Leu
XM_006720991.3:c.4208G>T	XP_006721054.1:p.Arg1403Leu
XM_006720992.3:c.1841G>T	XP_006721055.1:p.Arg614Leu
XM_011522766.3:c.3962G>T	XP_011521068.1:p.Arg1321Leu
XM_011522767.2:c.3233G>T	XP_011521069.1:p.Arg1078Leu
XM_017023910.1:c.4208G>T	XP_016879399.1:p.Arg1403Leu
XM_017023911.1:c.2393G>T	XP_016879400.1:p.Arg798Leu
NM_014714.4:c.4208G>T MANE Select	NP_055529.2:p.Arg1403Leu