Canonical Allele Identifier: CA4011958
Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 355495
dbSNP Id: rs200368187

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135290469C>T , CM000668.2:g.135290469C>T GRCh38
NC_000006.11:g.135611607C>T , CM000668.1:g.135611607C>T GRCh37
NC_000006.10:g.135653300C>T NCBI36
NG_008643.1:g.212297G>A
NG_008643.2:g.212297G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265602.11:c.3542G>A MANE Select ENSP00000265602.6:p.Arg1181Gln
ENST00000498558.6:n.583G>A
ENST00000527681.2:n.1211G>A
ENST00000679434.1:n.5158G>A ENSP00000505592.1:p.=
ENST00000679450.1:n.3281G>A ENSP00000506494.1:p.Arg1094Gln
ENST00000679490.1:n.2917G>A
ENST00000679502.1:n.2361-4822G>A
ENST00000679589.1:c.*3570G>A ENSP00000506644.1:p.=
ENST00000679668.1:n.5074G>A ENSP00000505364.1:p.=
ENST00000679672.1:c.*1517G>A ENSP00000505697.1:p.=
ENST00000679711.1:n.1836G>A
ENST00000679742.1:n.4896-4822G>A ENSP00000504890.1:p.=
ENST00000679890.1:n.2033G>A
ENST00000679925.1:c.3486-4822G>A ENSP00000505502.1:p.=
ENST00000679943.1:n.3603G>A ENSP00000505663.1:p.=
ENST00000680071.1:n.4315G>A
ENST00000680119.1:n.3767G>A ENSP00000506403.1:p.=
ENST00000680328.1:n.651G>A
ENST00000680337.1:n.944-4822G>A
ENST00000680561.1:n.6229-4822G>A
ENST00000680826.1:n.3727G>A ENSP00000505224.1:p.=
ENST00000680840.1:n.3770G>A ENSP00000505809.1:p.=
ENST00000680965.1:c.*996G>A ENSP00000505398.1:p.=
ENST00000681022.1:c.3542G>A ENSP00000505121.1:p.Arg1181Gln
ENST00000681057.1:n.2744-4822G>A
ENST00000681196.1:n.4259-4822G>A
ENST00000681301.1:n.3389G>A ENSP00000505093.1:p.Arg1130Gln
ENST00000681331.1:n.1271G>A
ENST00000681332.1:n.4059G>A
ENST00000681340.1:c.3542G>A ENSP00000505666.1:p.Arg1181Gln
ENST00000681365.1:c.3542G>A ENSP00000506604.1:p.Arg1181Gln
ENST00000681488.1:n.3411G>A ENSP00000505884.1:p.=
ENST00000681522.1:c.3542G>A ENSP00000506005.1:p.Arg1181Gln
ENST00000681556.1:n.3676G>A
ENST00000681718.1:c.*2029G>A ENSP00000505266.1:p.=
ENST00000681754.1:n.4230G>A
ENST00000681828.1:n.5098G>A ENSP00000505608.1:p.=
ENST00000681841.1:c.3542G>A ENSP00000504965.1:p.Arg1181Gln
ENST00000681860.1:n.3358G>A ENSP00000506250.1:p.=
ENST00000265602.10:c.3542G>A ENSP00000265602.6:p.Arg1181Gln
ENST00000367799.6:n.1985-4822G>A
ENST00000367800.8:c.3542G>A ENSP00000356774.4:p.Arg1181Gln
ENST00000457866.6:c.3542G>A ENSP00000388650.2:p.Arg1181Gln
ENST00000475846.6:n.1972G>A
ENST00000487135.1:n.155-4822G>A
ENST00000498558.5:n.391G>A
ENST00000527681.1:n.151G>A
NM_001134830.1:c.3542G>A NP_001128302.1:p.Arg1181Gln
NM_001134831.1:c.3542G>A NP_001128303.1:p.Arg1181Gln
NM_017651.4:c.3542G>A NP_060121.3:p.Arg1181Gln
XM_011535910.1:c.3542G>A XP_011534212.1:p.Arg1181Gln
XM_011535911.1:c.3542G>A XP_011534213.1:p.Arg1181Gln
XM_011535914.1:c.*63G>A XP_011534216.1:p.=
XM_011535915.1:c.3486-4822G>A XP_011534217.1:p.=
XR_942488.1:n.5384G>A
XR_942490.1:n.5328-4822G>A
XR_942493.1:n.5245G>A
XR_942494.1:n.5082G>A
NM_001350503.1:c.3542G>A NP_001337432.1:p.Arg1181Gln
NM_001350504.1:c.3486-4822G>A NP_001337433.1:p.=
XM_011535910.3:c.3542G>A XP_011534212.1:p.Arg1181Gln
XM_011535911.3:c.3542G>A XP_011534213.1:p.Arg1181Gln
XM_017010980.2:c.*63G>A XP_016866469.1:p.=
XM_017010981.2:c.3488G>A XP_016866470.1:p.Arg1163Gln
XM_024446479.1:c.3488G>A XP_024302247.1:p.Arg1163Gln
XR_001743479.2:n.5481G>A
XR_001743480.2:n.4309G>A
XR_001743481.2:n.4274G>A
XR_001743482.2:n.4177G>A
XR_001743483.2:n.5425-4822G>A
XR_001743484.2:n.5342G>A
XR_001743485.2:n.4038G>A
XR_001743486.2:n.5286-4822G>A
XR_001743487.2:n.5464G>A
XR_001743488.1:n.5706G>A
XR_001743489.2:n.5179G>A
XR_001743490.2:n.4160G>A
XR_002956286.1:n.3813G>A
XR_002956287.1:n.3757-4822G>A
NM_001134831.2:c.3542G>A MANE Select NP_001128303.1:p.Arg1181Gln
NM_001134830.2:c.3542G>A NP_001128302.1:p.Arg1181Gln
NM_001350503.2:c.3542G>A NP_001337432.1:p.Arg1181Gln
NM_001350504.2:c.3486-4822G>A NP_001337433.1:p.=
NM_017651.5:c.3542G>A NP_060121.3:p.Arg1181Gln