Canonical Allele Identifier: CA346420586

Gene: IFT172

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27449293C>T , CM000664.2:g.27449293C>T	GRCh38
NC_000002.11:g.27672160C>T , CM000664.1:g.27672160C>T	GRCh37
NC_000002.10:g.27525664C>T	NCBI36
NG_034068.1:g.45519G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015662.3:c.4311+1G>A MANE Select	NP_056477.1:n.4311+1G>A
ENST00000260570.8:c.4311+1G>A MANE Select	ENSP00000260570.3:n.4311+1G>A
NM_015662.2:c.4311+1G>A	NP_056477.1:n.4311+1G>A
ENST00000260570.7:c.4311+1G>A	ENSP00000260570.3:n.4311+1G>A
ENST00000450564.1:c.643+1G>A	ENSP00000399017.1:n.643+1G>A
ENST00000507184.5:n.4592+1G>A
ENST00000509128.5:c.706+1G>A
ENST00000674594.1:n.923+1G>A
ENST00000674701.1:c.*3824+1G>A	ENSP00000502275.1:n.*3824+1G>A
ENST00000674824.1:c.*2759+1G>A	ENSP00000501824.1:n.*2759+1G>A
ENST00000674932.1:c.*4757+1G>A	ENSP00000501967.1:n.*4757+1G>A
ENST00000675410.1:c.*2300+1G>A	ENSP00000502030.1:n.*2300+1G>A
ENST00000675690.1:c.4245+1G>A	ENSP00000502283.1:n.4245+1G>A
ENST00000676119.1:c.*3537+1G>A	ENSP00000501701.1:n.*3537+1G>A
XM_005264254.1:c.4245+1G>A	XP_005264311.1:n.4245+1G>A
XM_006711986.2:c.4248+1G>A	XP_006712049.1:n.4248+1G>A
XM_006711986.3:c.4248+1G>A	XP_006712049.1:n.4248+1G>A
XM_006711987.1:c.4311+1G>A	XP_006712050.1:n.4311+1G>A
XM_011532757.1:c.3630+1G>A	XP_011531059.1:n.3630+1G>A
XM_011532757.2:c.3630+1G>A	XP_011531059.1:n.3630+1G>A
XM_011532759.1:c.2751+1G>A	XP_011531061.1:n.2751+1G>A
XM_011532759.2:c.2751+1G>A	XP_011531061.1:n.2751+1G>A
XM_011532760.1:c.2376+1G>A	XP_011531062.1:n.2376+1G>A
XM_011532760.2:c.2376+1G>A	XP_011531062.1:n.2376+1G>A
XM_017003790.1:c.4182+1G>A	XP_016859279.1:n.4182+1G>A
XM_017003791.1:c.3630+1G>A	XP_016859280.1:n.3630+1G>A
XM_017003793.1:c.2448+1G>A	XP_016859282.1:n.2448+1G>A
XM_017003794.1:c.2448+1G>A	XP_016859283.1:n.2448+1G>A
XM_017003795.1:c.2244+1G>A	XP_016859284.1:n.2244+1G>A