Canonical Allele Identifier: CA394222580

Gene: IFT140

Linked Data

• ClinVar Variation Id: 957159
• ClinVar RCV Id: RCV001230090
• dbSNP Id: rs2040132765
• gnomAD v4: 16-1511146-T-C
• MyVariant Identifiers: chr16:g.1561147T>C (hg19) ; chr16:g.1511146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511146T>C , CM000678.2:g.1511146T>C	GRCh38
NC_000016.9:g.1561147T>C , CM000678.1:g.1561147T>C	GRCh37
NC_000016.8:g.1501148T>C	NCBI36
NG_032783.1:g.105963A>G
NG_050910.1:g.22803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4187A>G MANE Select	ENSP00000406012.2:p.Tyr1396Cys
ENST00000361339.9:c.1769A>G	ENSP00000354895.5:p.Tyr590Cys
ENST00000397417.6:c.*2625A>G	ENSP00000380562.2:n.*2625A>G
ENST00000426508.6:c.4187A>G	ENSP00000406012.2:p.Tyr1396Cys
ENST00000565298.5:n.4011A>G
NM_014714.3:c.4187A>G	NP_055529.2:p.Tyr1396Cys
XM_006720989.2:c.4187A>G	XP_006721052.1:p.Tyr1396Cys
XM_006720990.2:c.4187A>G	XP_006721053.1:p.Tyr1396Cys
XM_006720991.2:c.4187A>G	XP_006721054.1:p.Tyr1396Cys
XM_006720992.2:c.1820A>G	XP_006721055.1:p.Tyr607Cys
XM_011522766.1:c.3941A>G	XP_011521068.1:p.Tyr1314Cys
XM_011522767.1:c.3212A>G	XP_011521069.1:p.Tyr1071Cys
XM_006720990.3:c.4187A>G	XP_006721053.1:p.Tyr1396Cys
XM_006720991.3:c.4187A>G	XP_006721054.1:p.Tyr1396Cys
XM_006720992.3:c.1820A>G	XP_006721055.1:p.Tyr607Cys
XM_011522766.3:c.3941A>G	XP_011521068.1:p.Tyr1314Cys
XM_011522767.2:c.3212A>G	XP_011521069.1:p.Tyr1071Cys
XM_017023910.1:c.4187A>G	XP_016879399.1:p.Tyr1396Cys
XM_017023911.1:c.2372A>G	XP_016879400.1:p.Tyr791Cys
NM_014714.4:c.4187A>G MANE Select	NP_055529.2:p.Tyr1396Cys