Canonical Allele Identifier: CA346422497

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27450097C>G , CM000664.2:g.27450097C>G	GRCh38
NC_000002.11:g.27672964C>G , CM000664.1:g.27672964C>G	GRCh37
NC_000002.10:g.27526468C>G	NCBI36
NG_034068.1:g.44715G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.3952-1G>C MANE Select	NP_056477.1:n.3952-1G>C
ENST00000260570.8:c.3952-1G>C MANE Select	ENSP00000260570.3:n.3952-1G>C
NM_015662.2:c.3952-1G>C	NP_056477.1:n.3952-1G>C
ENST00000260570.7:c.3952-1G>C	ENSP00000260570.3:n.3952-1G>C
ENST00000450564.1:c.284-1G>C	ENSP00000399017.1:n.284-1G>C
ENST00000507184.5:n.4233-1G>C
ENST00000509128.5:c.347-1G>C
ENST00000674594.1:n.563G>C
ENST00000674701.1:c.*3465-1G>C	ENSP00000502275.1:n.*3465-1G>C
ENST00000674824.1:c.*2400-1G>C	ENSP00000501824.1:n.*2400-1G>C
ENST00000674932.1:c.*4398-1G>C	ENSP00000501967.1:n.*4398-1G>C
ENST00000675410.1:c.*1823-1G>C	ENSP00000502030.1:n.*1823-1G>C
ENST00000675690.1:c.3886-1G>C	ENSP00000502283.1:n.3886-1G>C
ENST00000676119.1:c.*3242-1G>C	ENSP00000501701.1:n.*3242-1G>C
XM_005264254.1:c.3886-1G>C	XP_005264311.1:n.3886-1G>C
XM_006711986.2:c.3889-1G>C	XP_006712049.1:n.3889-1G>C
XM_006711986.3:c.3889-1G>C	XP_006712049.1:n.3889-1G>C
XM_006711987.1:c.3952-1G>C	XP_006712050.1:n.3952-1G>C
XM_011532757.1:c.3271-1G>C	XP_011531059.1:n.3271-1G>C
XM_011532757.2:c.3271-1G>C	XP_011531059.1:n.3271-1G>C
XM_011532759.1:c.2392-1G>C	XP_011531061.1:n.2392-1G>C
XM_011532759.2:c.2392-1G>C	XP_011531061.1:n.2392-1G>C
XM_011532760.1:c.2017-1G>C	XP_011531062.1:n.2017-1G>C
XM_011532760.2:c.2017-1G>C	XP_011531062.1:n.2017-1G>C
XM_017003790.1:c.3823-1G>C	XP_016859279.1:n.3823-1G>C
XM_017003791.1:c.3271-1G>C	XP_016859280.1:n.3271-1G>C
XM_017003793.1:c.2089-1G>C	XP_016859282.1:n.2089-1G>C
XM_017003794.1:c.2089-1G>C	XP_016859283.1:n.2089-1G>C
XM_017003795.1:c.1885-1G>C	XP_016859284.1:n.1885-1G>C
XR_001738698.1:n.3897-1G>C