Canonical Allele Identifier: CA346397249

Gene: IFT172

Linked Data

• gnomAD v4: 2-27480106-C-G
• MyVariant Identifiers: chr2:g.27702973C>G (hg19) ; chr2:g.27480106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27480106C>G , CM000664.2:g.27480106C>G	GRCh38
NC_000002.11:g.27702973C>G , CM000664.1:g.27702973C>G	GRCh37
NC_000002.10:g.27556477C>G	NCBI36
NG_034068.1:g.14706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260570.8:c.829G>C MANE Select	ENSP00000260570.3:p.Glu277Gln
ENST00000476264.7:n.1118G>C
ENST00000674701.1:c.829G>C	ENSP00000502275.1:p.Glu277Gln
ENST00000674824.1:c.766G>C	ENSP00000501824.1:p.Glu256Gln
ENST00000674932.1:c.*492G>C	ENSP00000501967.1:n.*492G>C
ENST00000675410.1:c.148G>C	ENSP00000502030.1:p.Glu50Gln
ENST00000675618.1:n.909G>C
ENST00000675690.1:c.829G>C	ENSP00000502283.1:p.Glu277Gln
ENST00000675728.1:c.766G>C	ENSP00000501700.1:p.Glu256Gln
ENST00000675729.1:c.829G>C	ENSP00000502319.1:p.Glu277Gln
ENST00000675963.1:c.*527G>C	ENSP00000502708.1:n.*527G>C
ENST00000676119.1:c.*119G>C	ENSP00000501701.1:n.*119G>C
ENST00000676300.1:n.915G>C
ENST00000260570.7:c.829G>C	ENSP00000260570.3:p.Glu277Gln
ENST00000359466.10:c.829G>C	ENSP00000352443.6:p.Glu277Gln
ENST00000416524.2:c.766G>C	ENSP00000407408.2:p.Glu256Gln
ENST00000476264.6:n.775G>C
ENST00000507184.5:n.961G>C
ENST00000511842.5:n.854G>C
NM_015662.2:c.829G>C	NP_056477.1:p.Glu277Gln
XM_005264254.1:c.829G>C	XP_005264311.1:p.Glu277Gln
XM_006711986.2:c.766G>C	XP_006712049.1:p.Glu256Gln
XM_006711987.1:c.829G>C	XP_006712050.1:p.Glu277Gln
XM_011532757.1:c.148G>C	XP_011531059.1:p.Glu50Gln
XM_011532758.1:c.829G>C	XP_011531060.1:p.Glu277Gln
XM_006711986.3:c.766G>C	XP_006712049.1:p.Glu256Gln
XM_011532757.2:c.148G>C	XP_011531059.1:p.Glu50Gln
XM_017003790.1:c.766G>C	XP_016859279.1:p.Glu256Gln
XM_017003791.1:c.148G>C	XP_016859280.1:p.Glu50Gln
XM_017003792.1:c.829G>C	XP_016859281.1:p.Glu277Gln
XM_017003793.1:c.-622G>C	XP_016859282.1:n.-622G>C
XM_017003794.1:c.-622G>C	XP_016859283.1:n.-622G>C
XM_017003795.1:c.-994G>C	XP_016859284.1:n.-994G>C
XR_001738698.1:n.884G>C
NM_015662.3:c.829G>C MANE Select	NP_056477.1:p.Glu277Gln