Canonical Allele Identifier: CA394214708

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1464883
• ClinVar RCV Id: RCV001956999
• dbSNP Id: rs2034748123
• gnomAD v3: 16-1584316-C-T
• gnomAD v4: 16-1584316-C-T
• MyVariant Identifiers: chr16:g.1634317C>T (hg19) ; chr16:g.1584316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584316C>T , CM000678.2:g.1584316C>T	GRCh38
NC_000016.9:g.1634317C>T , CM000678.1:g.1634317C>T	GRCh37
NC_000016.8:g.1574318C>T	NCBI36
NG_032783.1:g.32793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1260G>A MANE Select	ENSP00000406012.2:p.Met420Ile
ENST00000397417.6:c.433G>A	ENSP00000380562.2:p.Ala145Thr
ENST00000426508.6:c.1260G>A	ENSP00000406012.2:p.Met420Ile
ENST00000439987.6:n.1321G>A
NM_014714.3:c.1260G>A	NP_055529.2:p.Met420Ile
XM_005255725.3:c.1260G>A	XP_005255782.1:p.Met420Ile
XM_005255726.2:c.1260G>A	XP_005255783.1:p.Met420Ile
XM_006720989.2:c.1260G>A	XP_006721052.1:p.Met420Ile
XM_006720990.2:c.1260G>A	XP_006721053.1:p.Met420Ile
XM_006720991.2:c.1260G>A	XP_006721054.1:p.Met420Ile
XM_011522766.1:c.1260G>A	XP_011521068.1:p.Met420Ile
XM_011522767.1:c.285G>A	XP_011521069.1:p.Met95Ile
XM_011522768.1:c.1260G>A	XP_011521070.1:p.Met420Ile
XM_011522769.1:c.1260G>A	XP_011521071.1:p.Met420Ile
XM_011522771.1:c.1260G>A	XP_011521073.1:p.Met420Ile
XM_011522772.1:c.1260G>A	XP_011521074.1:p.Met420Ile
NR_135176.1:n.59+3731C>T
XM_005255725.5:c.1260G>A	XP_005255782.1:p.Met420Ile
XM_005255726.4:c.1260G>A	XP_005255783.1:p.Met420Ile
XM_006720990.3:c.1260G>A	XP_006721053.1:p.Met420Ile
XM_006720991.3:c.1260G>A	XP_006721054.1:p.Met420Ile
XM_011522766.3:c.1260G>A	XP_011521068.1:p.Met420Ile
XM_011522767.2:c.285G>A	XP_011521069.1:p.Met95Ile
XM_011522769.3:c.1260G>A	XP_011521071.1:p.Met420Ile
XM_011522771.3:c.1260G>A	XP_011521073.1:p.Met420Ile
XM_011522772.3:c.1260G>A	XP_011521074.1:p.Met420Ile
XM_017023910.1:c.1260G>A	XP_016879399.1:p.Met420Ile
XM_017023911.1:c.-438G>A	XP_016879400.1:n.-438G>A
NM_014714.4:c.1260G>A MANE Select	NP_055529.2:p.Met420Ile