Canonical Allele Identifier: CA346393304

Gene: IFT172

Linked Data

• gnomAD v4: 2-27477224-G-C
• MyVariant Identifiers: chr2:g.27700091G>C (hg19) ; chr2:g.27477224G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27477224G>C , CM000664.2:g.27477224G>C	GRCh38
NC_000002.11:g.27700091G>C , CM000664.1:g.27700091G>C	GRCh37
NC_000002.10:g.27553595G>C	NCBI36
NG_034068.1:g.17588C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260570.8:c.1318C>G MANE Select	ENSP00000260570.3:p.Leu440Val
ENST00000476264.7:n.1607C>G
ENST00000674701.1:c.1318C>G	ENSP00000502275.1:p.Leu440Val
ENST00000674824.1:c.1255C>G	ENSP00000501824.1:p.Leu419Val
ENST00000674932.1:c.*981C>G	ENSP00000501967.1:n.*981C>G
ENST00000675410.1:c.637C>G	ENSP00000502030.1:p.Leu213Val
ENST00000675618.1:n.1398C>G
ENST00000675690.1:c.1318C>G	ENSP00000502283.1:p.Leu440Val
ENST00000675728.1:c.1255C>G	ENSP00000501700.1:p.Leu419Val
ENST00000675729.1:c.1318C>G	ENSP00000502319.1:p.Leu440Val
ENST00000675963.1:c.*1016C>G	ENSP00000502708.1:n.*1016C>G
ENST00000676119.1:c.*608C>G	ENSP00000501701.1:n.*608C>G
ENST00000676300.1:n.1642C>G
ENST00000260570.7:c.1318C>G	ENSP00000260570.3:p.Leu440Val
ENST00000359466.10:c.1318C>G	ENSP00000352443.6:p.Leu440Val
ENST00000416524.2:c.1255C>G	ENSP00000407408.2:p.Leu419Val
ENST00000476264.6:n.1264C>G
ENST00000507184.5:n.1450C>G
ENST00000511842.5:n.1343C>G
NM_015662.2:c.1318C>G	NP_056477.1:p.Leu440Val
XM_005264254.1:c.1318C>G	XP_005264311.1:p.Leu440Val
XM_006711986.2:c.1255C>G	XP_006712049.1:p.Leu419Val
XM_006711987.1:c.1318C>G	XP_006712050.1:p.Leu440Val
XM_011532757.1:c.637C>G	XP_011531059.1:p.Leu213Val
XM_011532758.1:c.1318C>G	XP_011531060.1:p.Leu440Val
XM_006711986.3:c.1255C>G	XP_006712049.1:p.Leu419Val
XM_011532757.2:c.637C>G	XP_011531059.1:p.Leu213Val
XM_017003790.1:c.1255C>G	XP_016859279.1:p.Leu419Val
XM_017003791.1:c.637C>G	XP_016859280.1:p.Leu213Val
XM_017003792.1:c.1318C>G	XP_016859281.1:p.Leu440Val
XM_017003793.1:c.-133C>G	XP_016859282.1:n.-133C>G
XM_017003794.1:c.-133C>G	XP_016859283.1:n.-133C>G
XM_017003795.1:c.-505C>G	XP_016859284.1:n.-505C>G
XR_001738698.1:n.1373C>G
NM_015662.3:c.1318C>G MANE Select	NP_056477.1:p.Leu440Val