Canonical Allele Identifier: CA7814123

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1143756
• ClinVar RCV Id: RCV001482042
• dbSNP Id: rs201049966
• ExAC: 16:1616233 G / A
• gnomAD v2: 16-1616233-G-A
• gnomAD v3: 16-1566232-G-A
• gnomAD v4: 16-1566232-G-A
• COSMIC: COSM2127349
• MyVariant Identifiers: chr16:g.1616233G>A (hg19) ; chr16:g.1566232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566232G>A , CM000678.2:g.1566232G>A	GRCh38
NC_000016.9:g.1616233G>A , CM000678.1:g.1616233G>A	GRCh37
NC_000016.8:g.1556234G>A	NCBI36
NG_032783.1:g.50877C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.1830C>T MANE Select	ENSP00000406012.2:p.Thr610=
ENST00000397417.6:c.*382C>T	ENSP00000380562.2:n.*382C>T
ENST00000426508.6:c.1830C>T	ENSP00000406012.2:p.Thr610=
ENST00000439987.6:n.1891C>T
ENST00000565298.5:n.518C>T
NM_014714.3:c.1830C>T	NP_055529.2:p.Thr610=
XM_005255725.3:c.1830C>T	XP_005255782.1:p.Thr610=
XM_005255726.2:c.1830C>T	XP_005255783.1:p.Thr610=
XM_006720989.2:c.1830C>T	XP_006721052.1:p.Thr610=
XM_006720990.2:c.1830C>T	XP_006721053.1:p.Thr610=
XM_006720991.2:c.1830C>T	XP_006721054.1:p.Thr610=
XM_011522766.1:c.1584C>T	XP_011521068.1:p.Thr528=
XM_011522767.1:c.855C>T	XP_011521069.1:p.Thr285=
XM_011522768.1:c.1830C>T	XP_011521070.1:p.Thr610=
XM_011522769.1:c.1830C>T	XP_011521071.1:p.Thr610=
XM_011522771.1:c.1830C>T	XP_011521073.1:p.Thr610=
XM_011522772.1:c.1830C>T	XP_011521074.1:p.Thr610=
XM_005255725.5:c.1830C>T	XP_005255782.1:p.Thr610=
XM_005255726.4:c.1830C>T	XP_005255783.1:p.Thr610=
XM_006720990.3:c.1830C>T	XP_006721053.1:p.Thr610=
XM_006720991.3:c.1830C>T	XP_006721054.1:p.Thr610=
XM_011522766.3:c.1584C>T	XP_011521068.1:p.Thr528=
XM_011522767.2:c.855C>T	XP_011521069.1:p.Thr285=
XM_011522769.3:c.1830C>T	XP_011521071.1:p.Thr610=
XM_011522771.3:c.1830C>T	XP_011521073.1:p.Thr610=
XM_011522772.3:c.1830C>T	XP_011521074.1:p.Thr610=
XM_017023910.1:c.1830C>T	XP_016879399.1:p.Thr610=
XM_017023911.1:c.15C>T	XP_016879400.1:p.Thr5=
NM_014714.4:c.1830C>T MANE Select	NP_055529.2:p.Thr610=