Canonical Allele Identifier: CA2580075047

Gene: AHI1

Linked Data

• ClinVar Variation Id: 2033323
• ClinVar RCV Id: RCV002872287

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290405T>A , CM000668.2:g.135290405T>A	GRCh38
NC_000006.11:g.135611543T>A , CM000668.1:g.135611543T>A	GRCh37
NC_000006.10:g.135653236T>A	NCBI36
NG_008643.1:g.212361A>T
NG_008643.2:g.212361A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3588+18A>T MANE Select	ENSP00000265602.6:n.3588+18A>T
ENST00000498558.6:n.629+18A>T
ENST00000527681.2:c.1257+18A>T
ENST00000679434.1:c.5204+18A>T	ENSP00000505592.1:n.5204+18A>T
ENST00000679450.1:c.3327+18A>T	ENSP00000506494.1:n.3327+18A>T
ENST00000679490.1:n.2963+18A>T
ENST00000679502.1:n.2361-4758A>T
ENST00000679589.1:c.*3616+18A>T	ENSP00000506644.1:n.*3616+18A>T
ENST00000679668.1:c.5120+18A>T	ENSP00000505364.1:n.5120+18A>T
ENST00000679672.1:c.*1563+18A>T	ENSP00000505697.1:n.*1563+18A>T
ENST00000679711.1:c.1882+18A>T
ENST00000679742.1:c.4896-4758A>T	ENSP00000504890.1:n.4896-4758A>T
ENST00000679890.1:n.2079+18A>T
ENST00000679925.1:c.3486-4758A>T	ENSP00000505502.1:n.3486-4758A>T
ENST00000679943.1:c.3649+18A>T	ENSP00000505663.1:n.3649+18A>T
ENST00000680071.1:n.4361+18A>T
ENST00000680119.1:c.3813+18A>T	ENSP00000506403.1:n.3813+18A>T
ENST00000680328.1:n.697+18A>T
ENST00000680337.1:c.944-4758A>T
ENST00000680561.1:n.6229-4758A>T
ENST00000680826.1:c.3773+18A>T	ENSP00000505224.1:n.3773+18A>T
ENST00000680840.1:c.3816+18A>T	ENSP00000505809.1:n.3816+18A>T
ENST00000680965.1:c.*1042+18A>T	ENSP00000505398.1:n.*1042+18A>T
ENST00000681022.1:c.3588+18A>T	ENSP00000505121.1:n.3588+18A>T
ENST00000681057.1:n.2744-4758A>T
ENST00000681196.1:n.4259-4758A>T
ENST00000681301.1:c.3435+18A>T	ENSP00000505093.1:n.3435+18A>T
ENST00000681331.1:n.1317+18A>T
ENST00000681332.1:n.4105+18A>T
ENST00000681340.1:c.3588+18A>T	ENSP00000505666.1:n.3588+18A>T
ENST00000681365.1:c.3588+18A>T	ENSP00000506604.1:n.3588+18A>T
ENST00000681488.1:c.3457+18A>T	ENSP00000505884.1:n.3457+18A>T
ENST00000681522.1:c.3588+18A>T	ENSP00000506005.1:n.3588+18A>T
ENST00000681556.1:n.3722+18A>T
ENST00000681718.1:c.*2075+18A>T	ENSP00000505266.1:n.*2075+18A>T
ENST00000681754.1:n.4276+18A>T
ENST00000681828.1:c.5144+18A>T	ENSP00000505608.1:n.5144+18A>T
ENST00000681841.1:c.3588+18A>T	ENSP00000504965.1:n.3588+18A>T
ENST00000681860.1:c.3404+18A>T	ENSP00000506250.1:n.3404+18A>T
ENST00000265602.10:c.3588+18A>T	ENSP00000265602.6:n.3588+18A>T
ENST00000367799.6:c.1985-4758A>T
ENST00000367800.8:c.3588+18A>T	ENSP00000356774.4:n.3588+18A>T
ENST00000457866.6:c.3588+18A>T	ENSP00000388650.2:n.3588+18A>T
ENST00000475846.6:c.2018+18A>T
ENST00000487135.1:n.155-4758A>T
ENST00000498558.5:n.437+18A>T
ENST00000527681.1:c.197+18A>T
NM_001134830.1:c.3588+18A>T	NP_001128302.1:n.3588+18A>T
NM_001134831.1:c.3588+18A>T	NP_001128303.1:n.3588+18A>T
NM_017651.4:c.3588+18A>T	NP_060121.3:n.3588+18A>T
XM_011535910.1:c.3588+18A>T	XP_011534212.1:n.3588+18A>T
XM_011535911.1:c.3588+18A>T	XP_011534213.1:n.3588+18A>T
XM_011535915.1:c.3486-4758A>T	XP_011534217.1:n.3486-4758A>T
XR_942488.1:n.5430+18A>T
XR_942490.1:n.5328-4758A>T
XR_942493.1:n.5291+18A>T
XR_942494.1:n.5128+18A>T
NM_001350503.1:c.3588+18A>T	NP_001337432.1:n.3588+18A>T
NM_001350504.1:c.3486-4758A>T	NP_001337433.1:n.3486-4758A>T
XM_011535910.3:c.3588+18A>T	XP_011534212.1:n.3588+18A>T
XM_011535911.3:c.3588+18A>T	XP_011534213.1:n.3588+18A>T
XM_017010981.2:c.3534+18A>T	XP_016866470.1:n.3534+18A>T
XM_024446479.1:c.3534+18A>T	XP_024302247.1:n.3534+18A>T
XR_001743479.2:n.5527+18A>T
XR_001743480.2:n.4355+18A>T
XR_001743481.2:n.4320+18A>T
XR_001743482.2:n.4223+18A>T
XR_001743483.2:n.5425-4758A>T
XR_001743484.2:n.5388+18A>T
XR_001743485.2:n.4084+18A>T
XR_001743486.2:n.5286-4758A>T
XR_001743487.2:n.5510+18A>T
XR_001743488.1:n.5752+18A>T
XR_001743489.2:n.5225+18A>T
XR_001743490.2:n.4206+18A>T
XR_002956286.1:n.3859+18A>T
XR_002956287.1:n.3757-4758A>T
NM_001134831.2:c.3588+18A>T MANE Select	NP_001128303.1:n.3588+18A>T
NM_001134830.2:c.3588+18A>T	NP_001128302.1:n.3588+18A>T
NM_001350503.2:c.3588+18A>T	NP_001337432.1:n.3588+18A>T
NM_001350504.2:c.3486-4758A>T	NP_001337433.1:n.3486-4758A>T
NM_017651.5:c.3588+18A>T	NP_060121.3:n.3588+18A>T