Canonical Allele Identifier: CA425413779
Gene: IFT172 HGNC NCBI

Linked Data

gnomAD v4: 2-27480032-G-C
MyVariant Identifiers: chr2:g.27702899G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27480032G>C , CM000664.2:g.27480032G>C GRCh38
NC_000002.11:g.27702899G>C , CM000664.1:g.27702899G>C GRCh37
NC_000002.10:g.27556403G>C NCBI36
NG_034068.1:g.14780C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260570.8:c.903C>G MANE Select ENSP00000260570.3:p.Leu301=
ENST00000476264.7:n.1192C>G
ENST00000674701.1:c.903C>G ENSP00000502275.1:p.Leu301=
ENST00000674824.1:c.840C>G ENSP00000501824.1:p.Leu280=
ENST00000674932.1:c.*566C>G ENSP00000501967.1:n.*566C>G
ENST00000675410.1:c.222C>G ENSP00000502030.1:p.Leu74=
ENST00000675618.1:n.983C>G
ENST00000675690.1:c.903C>G ENSP00000502283.1:p.Leu301=
ENST00000675728.1:c.840C>G ENSP00000501700.1:p.Leu280=
ENST00000675729.1:c.903C>G ENSP00000502319.1:p.Leu301=
ENST00000675963.1:c.*601C>G ENSP00000502708.1:n.*601C>G
ENST00000676119.1:c.*193C>G ENSP00000501701.1:n.*193C>G
ENST00000676300.1:n.989C>G
ENST00000260570.7:c.903C>G ENSP00000260570.3:p.Leu301=
ENST00000359466.10:c.903C>G ENSP00000352443.6:p.Leu301=
ENST00000416524.2:c.840C>G ENSP00000407408.2:p.Leu280=
ENST00000476264.6:n.849C>G
ENST00000507184.5:n.1035C>G
ENST00000511842.5:n.928C>G
NM_015662.2:c.903C>G NP_056477.1:p.Leu301=
XM_005264254.1:c.903C>G XP_005264311.1:p.Leu301=
XM_006711986.2:c.840C>G XP_006712049.1:p.Leu280=
XM_006711987.1:c.903C>G XP_006712050.1:p.Leu301=
XM_011532757.1:c.222C>G XP_011531059.1:p.Leu74=
XM_011532758.1:c.903C>G XP_011531060.1:p.Leu301=
XM_006711986.3:c.840C>G XP_006712049.1:p.Leu280=
XM_011532757.2:c.222C>G XP_011531059.1:p.Leu74=
XM_017003790.1:c.840C>G XP_016859279.1:p.Leu280=
XM_017003791.1:c.222C>G XP_016859280.1:p.Leu74=
XM_017003792.1:c.903C>G XP_016859281.1:p.Leu301=
XM_017003793.1:c.-548C>G XP_016859282.1:n.-548C>G
XM_017003794.1:c.-548C>G XP_016859283.1:n.-548C>G
XM_017003795.1:c.-920C>G XP_016859284.1:n.-920C>G
XR_001738698.1:n.958C>G
NM_015662.3:c.903C>G MANE Select NP_056477.1:p.Leu301=