Canonical Allele Identifier: CA1580852
Gene: IFT172 HGNC NCBI

Linked Data

ClinVar Variation Id: 373496
dbSNP Id: rs150938554
gnomAD v2: 2-27702971-C-G
gnomAD v3: 2-27480104-C-G
gnomAD v4: 2-27480104-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27480104C>G , CM000664.2:g.27480104C>G GRCh38
NC_000002.11:g.27702971C>G , CM000664.1:g.27702971C>G GRCh37
NC_000002.10:g.27556475C>G NCBI36
NG_034068.1:g.14708G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260570.8:c.831G>C MANE Select ENSP00000260570.3:p.Glu277Asp
ENST00000476264.7:n.1120G>C
ENST00000674701.1:c.831G>C ENSP00000502275.1:p.Glu277Asp
ENST00000674824.1:c.768G>C ENSP00000501824.1:p.Glu256Asp
ENST00000674932.1:c.*494G>C ENSP00000501967.1:n.*494G>C
ENST00000675410.1:c.150G>C ENSP00000502030.1:p.Glu50Asp
ENST00000675618.1:n.911G>C
ENST00000675690.1:c.831G>C ENSP00000502283.1:p.Glu277Asp
ENST00000675728.1:c.768G>C ENSP00000501700.1:p.Glu256Asp
ENST00000675729.1:c.831G>C ENSP00000502319.1:p.Glu277Asp
ENST00000675963.1:c.*529G>C ENSP00000502708.1:n.*529G>C
ENST00000676119.1:c.*121G>C ENSP00000501701.1:n.*121G>C
ENST00000676300.1:n.917G>C
ENST00000260570.7:c.831G>C ENSP00000260570.3:p.Glu277Asp
ENST00000359466.10:c.831G>C ENSP00000352443.6:p.Glu277Asp
ENST00000416524.2:c.768G>C ENSP00000407408.2:p.Glu256Asp
ENST00000476264.6:n.777G>C
ENST00000507184.5:n.963G>C
ENST00000511842.5:n.856G>C
NM_015662.2:c.831G>C NP_056477.1:p.Glu277Asp
XM_005264254.1:c.831G>C XP_005264311.1:p.Glu277Asp
XM_006711986.2:c.768G>C XP_006712049.1:p.Glu256Asp
XM_006711987.1:c.831G>C XP_006712050.1:p.Glu277Asp
XM_011532757.1:c.150G>C XP_011531059.1:p.Glu50Asp
XM_011532758.1:c.831G>C XP_011531060.1:p.Glu277Asp
XM_006711986.3:c.768G>C XP_006712049.1:p.Glu256Asp
XM_011532757.2:c.150G>C XP_011531059.1:p.Glu50Asp
XM_017003790.1:c.768G>C XP_016859279.1:p.Glu256Asp
XM_017003791.1:c.150G>C XP_016859280.1:p.Glu50Asp
XM_017003792.1:c.831G>C XP_016859281.1:p.Glu277Asp
XM_017003793.1:c.-620G>C XP_016859282.1:n.-620G>C
XM_017003794.1:c.-620G>C XP_016859283.1:n.-620G>C
XM_017003795.1:c.-992G>C XP_016859284.1:n.-992G>C
XR_001738698.1:n.886G>C
NM_015662.3:c.831G>C MANE Select NP_056477.1:p.Glu277Asp