Canonical Allele Identifier: CA44515401

Gene: IFT172

Linked Data

• dbSNP Id: rs976552782
• gnomAD v2: 2-27703011-C-A
• gnomAD v3: 2-27480144-C-A
• gnomAD v4: 2-27480144-C-A
• MyVariant Identifiers: chr2:g.27703011C>A (hg19) ; chr2:g.27480144C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480144C>A , CM000664.2:g.27480144C>A	GRCh38
NC_000002.11:g.27703011C>A , CM000664.1:g.27703011C>A	GRCh37
NC_000002.10:g.27556515C>A	NCBI36
NG_034068.1:g.14668G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.791G>T MANE Select	ENSP00000260570.3:p.Arg264Leu
ENST00000476264.7:n.1080G>T
ENST00000674701.1:c.791G>T	ENSP00000502275.1:p.Arg264Leu
ENST00000674824.1:c.728G>T	ENSP00000501824.1:p.Arg243Leu
ENST00000674932.1:c.*454G>T	ENSP00000501967.1:n.*454G>T
ENST00000675410.1:c.110G>T	ENSP00000502030.1:p.Arg37Leu
ENST00000675618.1:n.871G>T
ENST00000675690.1:c.791G>T	ENSP00000502283.1:p.Arg264Leu
ENST00000675728.1:c.728G>T	ENSP00000501700.1:p.Arg243Leu
ENST00000675729.1:c.791G>T	ENSP00000502319.1:p.Arg264Leu
ENST00000675963.1:c.*489G>T	ENSP00000502708.1:n.*489G>T
ENST00000676119.1:c.*81G>T	ENSP00000501701.1:n.*81G>T
ENST00000676300.1:n.877G>T
ENST00000260570.7:c.791G>T	ENSP00000260570.3:p.Arg264Leu
ENST00000359466.10:c.791G>T	ENSP00000352443.6:p.Arg264Leu
ENST00000416524.2:c.728G>T	ENSP00000407408.2:p.Arg243Leu
ENST00000476264.6:n.737G>T
ENST00000507184.5:n.923G>T
ENST00000511842.5:n.816G>T
NM_015662.2:c.791G>T	NP_056477.1:p.Arg264Leu
XM_005264254.1:c.791G>T	XP_005264311.1:p.Arg264Leu
XM_006711986.2:c.728G>T	XP_006712049.1:p.Arg243Leu
XM_006711987.1:c.791G>T	XP_006712050.1:p.Arg264Leu
XM_011532757.1:c.110G>T	XP_011531059.1:p.Arg37Leu
XM_011532758.1:c.791G>T	XP_011531060.1:p.Arg264Leu
XM_006711986.3:c.728G>T	XP_006712049.1:p.Arg243Leu
XM_011532757.2:c.110G>T	XP_011531059.1:p.Arg37Leu
XM_017003790.1:c.728G>T	XP_016859279.1:p.Arg243Leu
XM_017003791.1:c.110G>T	XP_016859280.1:p.Arg37Leu
XM_017003792.1:c.791G>T	XP_016859281.1:p.Arg264Leu
XM_017003793.1:c.-660G>T	XP_016859282.1:n.-660G>T
XM_017003794.1:c.-660G>T	XP_016859283.1:n.-660G>T
XM_017003795.1:c.-1032G>T	XP_016859284.1:n.-1032G>T
XR_001738698.1:n.846G>T
NM_015662.3:c.791G>T MANE Select	NP_056477.1:p.Arg264Leu