Canonical Allele Identifier: CA425396286
Gene: IFT172 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27453991A>G , CM000664.2:g.27453991A>G GRCh38
NC_000002.11:g.27676858A>G , CM000664.1:g.27676858A>G GRCh37
NC_000002.10:g.27530362A>G NCBI36
NG_034068.1:g.40821T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260570.8:c.3702T>C MANE Select ENSP00000260570.3:p.Asn1234=
ENST00000674701.1:c.*3215T>C ENSP00000502275.1:n.*3215T>C
ENST00000674824.1:c.*1908T>C ENSP00000501824.1:n.*1908T>C
ENST00000674932.1:c.*4148T>C ENSP00000501967.1:n.*4148T>C
ENST00000675410.1:c.*1573T>C ENSP00000502030.1:n.*1573T>C
ENST00000675690.1:c.3636T>C ENSP00000502283.1:p.Asn1212=
ENST00000676119.1:c.*2992T>C ENSP00000501701.1:n.*2992T>C
ENST00000260570.7:c.3702T>C ENSP00000260570.3:p.Asn1234=
ENST00000443889.1:c.307T>C
ENST00000450564.1:c.144T>C ENSP00000399017.1:p.Asn48=
ENST00000507184.5:n.3983T>C
ENST00000509128.5:c.97T>C
NM_015662.2:c.3702T>C NP_056477.1:p.Asn1234=
XM_005264254.1:c.3636T>C XP_005264311.1:p.Asn1212=
XM_006711986.2:c.3639T>C XP_006712049.1:p.Asn1213=
XM_006711987.1:c.3702T>C XP_006712050.1:p.Asn1234=
XM_011532757.1:c.3021T>C XP_011531059.1:p.Asn1007=
XM_011532758.1:c.3702T>C XP_011531060.1:p.Asn1234=
XM_011532759.1:c.2142T>C XP_011531061.1:p.Asn714=
XM_011532760.1:c.1767T>C XP_011531062.1:p.Asn589=
XM_006711986.3:c.3639T>C XP_006712049.1:p.Asn1213=
XM_011532757.2:c.3021T>C XP_011531059.1:p.Asn1007=
XM_011532759.2:c.2142T>C XP_011531061.1:p.Asn714=
XM_011532760.2:c.1767T>C XP_011531062.1:p.Asn589=
XM_017003790.1:c.3573T>C XP_016859279.1:p.Asn1191=
XM_017003791.1:c.3021T>C XP_016859280.1:p.Asn1007=
XM_017003792.1:c.3702T>C XP_016859281.1:p.Asn1234=
XM_017003793.1:c.1839T>C XP_016859282.1:p.Asn613=
XM_017003794.1:c.1839T>C XP_016859283.1:p.Asn613=
XM_017003795.1:c.1635T>C XP_016859284.1:p.Asn545=
XR_001738698.1:n.3757T>C
NM_015662.3:c.3702T>C MANE Select NP_056477.1:p.Asn1234=