Canonical Allele Identifier: CA492927717

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1123105
• ClinVar RCV Id: RCV001454014
• dbSNP Id: rs1482041898
• gnomAD v2: 16-1634283-G-A
• gnomAD v3: 16-1584282-G-A
• gnomAD v4: 16-1584282-G-A
• MyVariant Identifiers: chr16:g.1634283G>A (hg19) ; chr16:g.1584282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584282G>A , CM000678.2:g.1584282G>A	GRCh38
NC_000016.9:g.1634283G>A , CM000678.1:g.1634283G>A	GRCh37
NC_000016.8:g.1574284G>A	NCBI36
NG_032783.1:g.32827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1294C>T MANE Select	ENSP00000406012.2:p.Leu432=
ENST00000397417.6:c.467C>T	ENSP00000380562.2:p.Pro156Leu
ENST00000426508.6:c.1294C>T	ENSP00000406012.2:p.Leu432=
ENST00000439987.6:n.1355C>T
NM_014714.3:c.1294C>T	NP_055529.2:p.Leu432=
XM_005255725.3:c.1294C>T	XP_005255782.1:p.Leu432=
XM_005255726.2:c.1294C>T	XP_005255783.1:p.Leu432=
XM_006720989.2:c.1294C>T	XP_006721052.1:p.Leu432=
XM_006720990.2:c.1294C>T	XP_006721053.1:p.Leu432=
XM_006720991.2:c.1294C>T	XP_006721054.1:p.Leu432=
XM_011522766.1:c.1294C>T	XP_011521068.1:p.Leu432=
XM_011522767.1:c.319C>T	XP_011521069.1:p.Leu107=
XM_011522768.1:c.1294C>T	XP_011521070.1:p.Leu432=
XM_011522769.1:c.1294C>T	XP_011521071.1:p.Leu432=
XM_011522771.1:c.1294C>T	XP_011521073.1:p.Leu432=
XM_011522772.1:c.1294C>T	XP_011521074.1:p.Leu432=
NR_135176.1:n.59+3697G>A
XM_005255725.5:c.1294C>T	XP_005255782.1:p.Leu432=
XM_005255726.4:c.1294C>T	XP_005255783.1:p.Leu432=
XM_006720990.3:c.1294C>T	XP_006721053.1:p.Leu432=
XM_006720991.3:c.1294C>T	XP_006721054.1:p.Leu432=
XM_011522766.3:c.1294C>T	XP_011521068.1:p.Leu432=
XM_011522767.2:c.319C>T	XP_011521069.1:p.Leu107=
XM_011522769.3:c.1294C>T	XP_011521071.1:p.Leu432=
XM_011522771.3:c.1294C>T	XP_011521073.1:p.Leu432=
XM_011522772.3:c.1294C>T	XP_011521074.1:p.Leu432=
XM_017023910.1:c.1294C>T	XP_016879399.1:p.Leu432=
XM_017023911.1:c.-404C>T	XP_016879400.1:n.-404C>T
NM_014714.4:c.1294C>T MANE Select	NP_055529.2:p.Leu432=