Canonical Allele Identifier: CA1580840

Gene: IFT172

Linked Data

• ClinVar Variation Id: 966074
• ClinVar RCV Id: RCV001240662 ; RCV001595073 ; RCV001819939 ; RCV002491796 ; RCV004548093
• dbSNP Id: rs146332658
• ExAC: 2:27702903 C / T
• gnomAD v2: 2-27702903-C-T
• gnomAD v3: 2-27480036-C-T
• gnomAD v4: 2-27480036-C-T
• MyVariant Identifiers: chr2:g.27702903C>T (hg19) ; chr2:g.27480036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480036C>T , CM000664.2:g.27480036C>T	GRCh38
NC_000002.11:g.27702903C>T , CM000664.1:g.27702903C>T	GRCh37
NC_000002.10:g.27556407C>T	NCBI36
NG_034068.1:g.14776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.899G>A MANE Select	ENSP00000260570.3:p.Arg300Gln
ENST00000476264.7:n.1188G>A
ENST00000674701.1:c.899G>A	ENSP00000502275.1:p.Arg300Gln
ENST00000674824.1:c.836G>A	ENSP00000501824.1:p.Arg279Gln
ENST00000674932.1:c.*562G>A	ENSP00000501967.1:n.*562G>A
ENST00000675410.1:c.218G>A	ENSP00000502030.1:p.Arg73Gln
ENST00000675618.1:n.979G>A
ENST00000675690.1:c.899G>A	ENSP00000502283.1:p.Arg300Gln
ENST00000675728.1:c.836G>A	ENSP00000501700.1:p.Arg279Gln
ENST00000675729.1:c.899G>A	ENSP00000502319.1:p.Arg300Gln
ENST00000675963.1:c.*597G>A	ENSP00000502708.1:n.*597G>A
ENST00000676119.1:c.*189G>A	ENSP00000501701.1:n.*189G>A
ENST00000676300.1:n.985G>A
ENST00000260570.7:c.899G>A	ENSP00000260570.3:p.Arg300Gln
ENST00000359466.10:c.899G>A	ENSP00000352443.6:p.Arg300Gln
ENST00000416524.2:c.836G>A	ENSP00000407408.2:p.Arg279Gln
ENST00000476264.6:n.845G>A
ENST00000507184.5:n.1031G>A
ENST00000511842.5:n.924G>A
NM_015662.2:c.899G>A	NP_056477.1:p.Arg300Gln
XM_005264254.1:c.899G>A	XP_005264311.1:p.Arg300Gln
XM_006711986.2:c.836G>A	XP_006712049.1:p.Arg279Gln
XM_006711987.1:c.899G>A	XP_006712050.1:p.Arg300Gln
XM_011532757.1:c.218G>A	XP_011531059.1:p.Arg73Gln
XM_011532758.1:c.899G>A	XP_011531060.1:p.Arg300Gln
XM_006711986.3:c.836G>A	XP_006712049.1:p.Arg279Gln
XM_011532757.2:c.218G>A	XP_011531059.1:p.Arg73Gln
XM_017003790.1:c.836G>A	XP_016859279.1:p.Arg279Gln
XM_017003791.1:c.218G>A	XP_016859280.1:p.Arg73Gln
XM_017003792.1:c.899G>A	XP_016859281.1:p.Arg300Gln
XM_017003793.1:c.-552G>A	XP_016859282.1:n.-552G>A
XM_017003794.1:c.-552G>A	XP_016859283.1:n.-552G>A
XM_017003795.1:c.-924G>A	XP_016859284.1:n.-924G>A
XR_001738698.1:n.954G>A
NM_015662.3:c.899G>A MANE Select	NP_056477.1:p.Arg300Gln