Canonical Allele Identifier: CA2578748140

Gene: AHI1

Linked Data

• gnomAD v4: 6-135318491-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135318491T>C , CM000668.2:g.135318491T>C	GRCh38
NC_000006.11:g.135639629T>C , CM000668.1:g.135639629T>C	GRCh37
NC_000006.10:g.135681322T>C	NCBI36
NG_008643.1:g.184275A>G
NG_008643.2:g.184275A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3426+28A>G MANE Select	ENSP00000265602.6:n.3426+28A>G
ENST00000367799.7:c.2506A>G	ENSP00000356773.3:p.Ile836Val
ENST00000527681.2:c.1095+28A>G
ENST00000679434.1:c.3611+28A>G	ENSP00000505592.1:n.3611+28A>G
ENST00000679450.1:c.3166-17933A>G	ENSP00000506494.1:n.3166-17933A>G
ENST00000679476.1:c.1355+28A>G
ENST00000679589.1:c.*3454+28A>G	ENSP00000506644.1:n.*3454+28A>G
ENST00000679622.1:c.*353+28A>G	ENSP00000506261.1:n.*353+28A>G
ENST00000679668.1:c.3548+28A>G	ENSP00000505364.1:n.3548+28A>G
ENST00000679672.1:c.3426+28A>G	ENSP00000505697.1:n.3426+28A>G
ENST00000679711.1:c.1720+28A>G
ENST00000679742.1:c.3426+28A>G	ENSP00000504890.1:n.3426+28A>G
ENST00000679890.1:n.1917+28A>G
ENST00000679925.1:c.3426+28A>G	ENSP00000505502.1:n.3426+28A>G
ENST00000679943.1:c.3426+28A>G	ENSP00000505663.1:n.3426+28A>G
ENST00000680071.1:n.1940+28A>G
ENST00000680119.1:c.3503+28A>G	ENSP00000506403.1:n.3503+28A>G
ENST00000680157.1:n.1968A>G
ENST00000680184.1:c.*243A>G	ENSP00000506009.1:n.*243A>G
ENST00000680278.1:c.3926A>G	ENSP00000506153.1:n.3926A>G
ENST00000680337.1:c.884+28A>G
ENST00000680561.1:n.6169+28A>G
ENST00000680656.1:c.*531A>G	ENSP00000505297.1:n.*531A>G
ENST00000680826.1:c.3611+28A>G	ENSP00000505224.1:n.3611+28A>G
ENST00000680840.1:c.3548+28A>G	ENSP00000505809.1:n.3548+28A>G
ENST00000680965.1:c.*880+28A>G	ENSP00000505398.1:n.*880+28A>G
ENST00000681022.1:c.3426+28A>G	ENSP00000505121.1:n.3426+28A>G
ENST00000681057.1:n.2744-32844A>G
ENST00000681196.1:n.1940+28A>G
ENST00000681301.1:c.3273+28A>G	ENSP00000505093.1:n.3273+28A>G
ENST00000681331.1:n.1155+28A>G
ENST00000681332.1:n.3943+28A>G
ENST00000681340.1:c.3426+28A>G	ENSP00000505666.1:n.3426+28A>G
ENST00000681365.1:c.3426+28A>G	ENSP00000506604.1:n.3426+28A>G
ENST00000681488.1:c.3295+28A>G	ENSP00000505884.1:n.3295+28A>G
ENST00000681522.1:c.3426+28A>G	ENSP00000506005.1:n.3426+28A>G
ENST00000681670.1:c.3426+28A>G	ENSP00000504895.1:n.3426+28A>G
ENST00000681718.1:c.*503+28A>G	ENSP00000505266.1:n.*503+28A>G
ENST00000681756.1:c.3426+28A>G	ENSP00000506505.1:n.3426+28A>G
ENST00000681828.1:c.3548+28A>G	ENSP00000505608.1:n.3548+28A>G
ENST00000681841.1:c.3426+28A>G	ENSP00000504965.1:n.3426+28A>G
ENST00000681860.1:c.3039+28A>G	ENSP00000506250.1:n.3039+28A>G
ENST00000265602.10:c.3426+28A>G	ENSP00000265602.6:n.3426+28A>G
ENST00000367799.6:c.1925+28A>G
ENST00000367800.8:c.3426+28A>G	ENSP00000356774.4:n.3426+28A>G
ENST00000457866.6:c.3426+28A>G	ENSP00000388650.2:n.3426+28A>G
ENST00000475846.6:c.1618+28A>G
ENST00000531788.5:c.*1494A>G	ENSP00000432167.1:n.*1494A>G
ENST00000533029.1:n.316+28A>G
NM_001134830.1:c.3426+28A>G	NP_001128302.1:n.3426+28A>G
NM_001134831.1:c.3426+28A>G	NP_001128303.1:n.3426+28A>G
NM_017651.4:c.3426+28A>G	NP_060121.3:n.3426+28A>G
XM_011535910.1:c.3426+28A>G	XP_011534212.1:n.3426+28A>G
XM_011535911.1:c.3426+28A>G	XP_011534213.1:n.3426+28A>G
XM_011535912.1:c.3426+28A>G	XP_011534214.1:n.3426+28A>G
XM_011535913.1:c.3426+28A>G	XP_011534215.1:n.3426+28A>G
XM_011535914.1:c.3426+28A>G	XP_011534216.1:n.3426+28A>G
XM_011535915.1:c.3426+28A>G	XP_011534217.1:n.3426+28A>G
XR_942488.1:n.3719+28A>G
XR_942489.1:n.3719+28A>G
XR_942490.1:n.3719+28A>G
XR_942491.1:n.3719+28A>G
XR_942493.1:n.3719+28A>G
XR_942494.1:n.3556+28A>G
NM_001350503.1:c.3426+28A>G	NP_001337432.1:n.3426+28A>G
NM_001350504.1:c.3426+28A>G	NP_001337433.1:n.3426+28A>G
XM_011535910.3:c.3426+28A>G	XP_011534212.1:n.3426+28A>G
XM_011535911.3:c.3426+28A>G	XP_011534213.1:n.3426+28A>G
XM_017010978.2:c.3426+28A>G	XP_016866467.1:n.3426+28A>G
XM_017010979.2:c.3426+28A>G	XP_016866468.1:n.3426+28A>G
XM_017010980.2:c.3426+28A>G	XP_016866469.1:n.3426+28A>G
XM_017010981.2:c.3372+28A>G	XP_016866470.1:n.3372+28A>G
XM_024446479.1:c.3372+28A>G	XP_024302247.1:n.3372+28A>G
XR_001743479.2:n.3816+28A>G
XR_001743480.2:n.3816+28A>G
XR_001743481.2:n.3816+28A>G
XR_001743482.2:n.3816+28A>G
XR_001743483.2:n.3816+28A>G
XR_001743484.2:n.3816+28A>G
XR_001743485.2:n.3816+28A>G
XR_001743486.2:n.3816+28A>G
XR_001743487.2:n.3938+28A>G
XR_001743488.1:n.4180+28A>G
XR_001743489.2:n.3653+28A>G
XR_001743490.2:n.3938+28A>G
XR_002956286.1:n.3697+28A>G
XR_002956287.1:n.3697+28A>G
NM_001134831.2:c.3426+28A>G MANE Select	NP_001128303.1:n.3426+28A>G
NM_001134830.2:c.3426+28A>G	NP_001128302.1:n.3426+28A>G
NM_001350503.2:c.3426+28A>G	NP_001337432.1:n.3426+28A>G
NM_001350504.2:c.3426+28A>G	NP_001337433.1:n.3426+28A>G
NM_017651.5:c.3426+28A>G	NP_060121.3:n.3426+28A>G