Canonical Allele Identifier: CA346393897

Gene: IFT172

Linked Data

• dbSNP Id: rs776747406
• gnomAD v2: 2-27700178-T-C
• gnomAD v4: 2-27477311-T-C
• MyVariant Identifiers: chr2:g.27700178T>C (hg19) ; chr2:g.27477311T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27477311T>C , CM000664.2:g.27477311T>C	GRCh38
NC_000002.11:g.27700178T>C , CM000664.1:g.27700178T>C	GRCh37
NC_000002.10:g.27553682T>C	NCBI36
NG_034068.1:g.17501A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.1231A>G MANE Select	ENSP00000260570.3:p.Ile411Val
ENST00000476264.7:n.1520A>G
ENST00000674701.1:c.1231A>G	ENSP00000502275.1:p.Ile411Val
ENST00000674824.1:c.1168A>G	ENSP00000501824.1:p.Ile390Val
ENST00000674932.1:c.*894A>G	ENSP00000501967.1:n.*894A>G
ENST00000675410.1:c.550A>G	ENSP00000502030.1:p.Ile184Val
ENST00000675618.1:n.1311A>G
ENST00000675690.1:c.1231A>G	ENSP00000502283.1:p.Ile411Val
ENST00000675728.1:c.1168A>G	ENSP00000501700.1:p.Ile390Val
ENST00000675729.1:c.1231A>G	ENSP00000502319.1:p.Ile411Val
ENST00000675963.1:c.*929A>G	ENSP00000502708.1:n.*929A>G
ENST00000676119.1:c.*521A>G	ENSP00000501701.1:n.*521A>G
ENST00000676300.1:n.1555A>G
ENST00000260570.7:c.1231A>G	ENSP00000260570.3:p.Ile411Val
ENST00000359466.10:c.1231A>G	ENSP00000352443.6:p.Ile411Val
ENST00000416524.2:c.1168A>G	ENSP00000407408.2:p.Ile390Val
ENST00000476264.6:n.1177A>G
ENST00000507184.5:n.1363A>G
ENST00000511842.5:n.1256A>G
NM_015662.2:c.1231A>G	NP_056477.1:p.Ile411Val
XM_005264254.1:c.1231A>G	XP_005264311.1:p.Ile411Val
XM_006711986.2:c.1168A>G	XP_006712049.1:p.Ile390Val
XM_006711987.1:c.1231A>G	XP_006712050.1:p.Ile411Val
XM_011532757.1:c.550A>G	XP_011531059.1:p.Ile184Val
XM_011532758.1:c.1231A>G	XP_011531060.1:p.Ile411Val
XM_006711986.3:c.1168A>G	XP_006712049.1:p.Ile390Val
XM_011532757.2:c.550A>G	XP_011531059.1:p.Ile184Val
XM_017003790.1:c.1168A>G	XP_016859279.1:p.Ile390Val
XM_017003791.1:c.550A>G	XP_016859280.1:p.Ile184Val
XM_017003792.1:c.1231A>G	XP_016859281.1:p.Ile411Val
XM_017003793.1:c.-220A>G	XP_016859282.1:n.-220A>G
XM_017003794.1:c.-220A>G	XP_016859283.1:n.-220A>G
XM_017003795.1:c.-592A>G	XP_016859284.1:n.-592A>G
XR_001738698.1:n.1286A>G
NM_015662.3:c.1231A>G MANE Select	NP_056477.1:p.Ile411Val