Canonical Allele Identifier: CA1240274900
Gene: IFT172 HGNC NCBI
KRTCAP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27444503A= , CM000664.2:g.27444503A= GRCh38
NC_000002.11:g.27667370A= , CM000664.1:g.27667370A= GRCh37
NC_000002.10:g.27520874A= NCBI36
NG_034068.1:g.50309T=

Transcript Alleles

HGVS Amino-acid Change
NM_015662.3:c.5179T= (IFT172) MANE Select NP_056477.1:p.Cys1727=
ENST00000260570.8:c.5179T= (IFT172) MANE Select ENSP00000260570.3:p.Cys1727=
NM_001168364.1:c.*5+442A= (KRTCAP3) NP_001161836.1:n.*5+442A=
NM_001168364.2:c.*5+442A= (KRTCAP3) NP_001161836.1:n.*5+442A=
NM_015662.2:c.5179T= (IFT172) NP_056477.1:p.Cys1727=
ENST00000260570.7:c.5179T= (IFT172) ENSP00000260570.3:p.Cys1727=
ENST00000452499.1:c.194+442A= (KRTCAP3) ENSP00000388115.1:n.194+442A=
ENST00000507184.5:n.5460T= (IFT172)
ENST00000509128.5:c.1597T= (IFT172)
ENST00000543753.5:c.*5+442A= (KRTCAP3) ENSP00000442400.1:n.*5+442A=
ENST00000674932.1:c.*5625T= (IFT172) ENSP00000501967.1:n.*5625T=
ENST00000675410.1:c.*3168T= (IFT172) ENSP00000502030.1:n.*3168T=
ENST00000675690.1:c.5113T= (IFT172) ENSP00000502283.1:p.Cys1705=
ENST00000676119.1:c.*4405T= (IFT172) ENSP00000501701.1:n.*4405T=
XM_005264254.1:c.5113T= (IFT172) XP_005264311.1:p.Cys1705=
XM_006711986.2:c.5116T= (IFT172) XP_006712049.1:p.Cys1706=
XM_006711986.3:c.5116T= (IFT172) XP_006712049.1:p.Cys1706=
XM_006711987.1:c.5080T= (IFT172) XP_006712050.1:p.Cys1694=
XM_011532757.1:c.4498T= (IFT172) XP_011531059.1:p.Cys1500=
XM_011532757.2:c.4498T= (IFT172) XP_011531059.1:p.Cys1500=
XM_011532759.1:c.3619T= (IFT172) XP_011531061.1:p.Cys1207=
XM_011532759.2:c.3619T= (IFT172) XP_011531061.1:p.Cys1207=
XM_011532760.1:c.3244T= (IFT172) XP_011531062.1:p.Cys1082=
XM_011532760.2:c.3244T= (IFT172) XP_011531062.1:p.Cys1082=
XM_017003790.1:c.5050T= (IFT172) XP_016859279.1:p.Cys1684=
XM_017003791.1:c.4498T= (IFT172) XP_016859280.1:p.Cys1500=
XM_017003793.1:c.3316T= (IFT172) XP_016859282.1:p.Cys1106=
XM_017003794.1:c.3316T= (IFT172) XP_016859283.1:p.Cys1106=
XM_017003795.1:c.3112T= (IFT172) XP_016859284.1:p.Cys1038=