Canonical Allele Identifier: CA365840683

Gene: AHI1

Linked Data

• dbSNP Id: rs1419039017
• gnomAD v2: 6-135611592-T-C
• gnomAD v4: 6-135290454-T-C
• MyVariant Identifiers: chr6:g.135611592T>C (hg19) ; chr6:g.135290454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290454T>C , CM000668.2:g.135290454T>C	GRCh38
NC_000006.11:g.135611592T>C , CM000668.1:g.135611592T>C	GRCh37
NC_000006.10:g.135653285T>C	NCBI36
NG_008643.1:g.212312A>G
NG_008643.2:g.212312A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3557A>G MANE Select	ENSP00000265602.6:p.Lys1186Arg
ENST00000498558.6:n.598A>G
ENST00000527681.2:c.1226A>G
ENST00000679434.1:c.5173A>G	ENSP00000505592.1:n.5173A>G
ENST00000679450.1:c.3296A>G	ENSP00000506494.1:p.Lys1099Arg
ENST00000679490.1:n.2932A>G
ENST00000679502.1:n.2361-4807A>G
ENST00000679589.1:c.*3585A>G	ENSP00000506644.1:n.*3585A>G
ENST00000679668.1:c.5089A>G	ENSP00000505364.1:n.5089A>G
ENST00000679672.1:c.*1532A>G	ENSP00000505697.1:n.*1532A>G
ENST00000679711.1:c.1851A>G
ENST00000679742.1:c.4896-4807A>G	ENSP00000504890.1:n.4896-4807A>G
ENST00000679890.1:n.2048A>G
ENST00000679925.1:c.3486-4807A>G	ENSP00000505502.1:n.3486-4807A>G
ENST00000679943.1:c.3618A>G	ENSP00000505663.1:n.3618A>G
ENST00000680071.1:n.4330A>G
ENST00000680119.1:c.3782A>G	ENSP00000506403.1:n.3782A>G
ENST00000680328.1:n.666A>G
ENST00000680337.1:c.944-4807A>G
ENST00000680561.1:n.6229-4807A>G
ENST00000680826.1:c.3742A>G	ENSP00000505224.1:n.3742A>G
ENST00000680840.1:c.3785A>G	ENSP00000505809.1:n.3785A>G
ENST00000680965.1:c.*1011A>G	ENSP00000505398.1:n.*1011A>G
ENST00000681022.1:c.3557A>G	ENSP00000505121.1:p.Lys1186Arg
ENST00000681057.1:n.2744-4807A>G
ENST00000681196.1:n.4259-4807A>G
ENST00000681301.1:c.3404A>G	ENSP00000505093.1:p.Lys1135Arg
ENST00000681331.1:n.1286A>G
ENST00000681332.1:n.4074A>G
ENST00000681340.1:c.3557A>G	ENSP00000505666.1:p.Lys1186Arg
ENST00000681365.1:c.3557A>G	ENSP00000506604.1:p.Lys1186Arg
ENST00000681488.1:c.3426A>G	ENSP00000505884.1:n.3426A>G
ENST00000681522.1:c.3557A>G	ENSP00000506005.1:p.Lys1186Arg
ENST00000681556.1:n.3691A>G
ENST00000681718.1:c.*2044A>G	ENSP00000505266.1:n.*2044A>G
ENST00000681754.1:n.4245A>G
ENST00000681828.1:c.5113A>G	ENSP00000505608.1:n.5113A>G
ENST00000681841.1:c.3557A>G	ENSP00000504965.1:p.Lys1186Arg
ENST00000681860.1:c.3373A>G	ENSP00000506250.1:n.3373A>G
ENST00000265602.10:c.3557A>G	ENSP00000265602.6:p.Lys1186Arg
ENST00000367799.6:c.1985-4807A>G
ENST00000367800.8:c.3557A>G	ENSP00000356774.4:p.Lys1186Arg
ENST00000457866.6:c.3557A>G	ENSP00000388650.2:p.Lys1186Arg
ENST00000475846.6:c.1987A>G
ENST00000487135.1:n.155-4807A>G
ENST00000498558.5:n.406A>G
ENST00000527681.1:c.166A>G
NM_001134830.1:c.3557A>G	NP_001128302.1:p.Lys1186Arg
NM_001134831.1:c.3557A>G	NP_001128303.1:p.Lys1186Arg
NM_017651.4:c.3557A>G	NP_060121.3:p.Lys1186Arg
XM_011535910.1:c.3557A>G	XP_011534212.1:p.Lys1186Arg
XM_011535911.1:c.3557A>G	XP_011534213.1:p.Lys1186Arg
XM_011535914.1:c.*78A>G	XP_011534216.1:n.*78A>G
XM_011535915.1:c.3486-4807A>G	XP_011534217.1:n.3486-4807A>G
XR_942488.1:n.5399A>G
XR_942490.1:n.5328-4807A>G
XR_942493.1:n.5260A>G
XR_942494.1:n.5097A>G
NM_001350503.1:c.3557A>G	NP_001337432.1:p.Lys1186Arg
NM_001350504.1:c.3486-4807A>G	NP_001337433.1:n.3486-4807A>G
XM_011535910.3:c.3557A>G	XP_011534212.1:p.Lys1186Arg
XM_011535911.3:c.3557A>G	XP_011534213.1:p.Lys1186Arg
XM_017010980.2:c.*78A>G	XP_016866469.1:n.*78A>G
XM_017010981.2:c.3503A>G	XP_016866470.1:p.Lys1168Arg
XM_024446479.1:c.3503A>G	XP_024302247.1:p.Lys1168Arg
XR_001743479.2:n.5496A>G
XR_001743480.2:n.4324A>G
XR_001743481.2:n.4289A>G
XR_001743482.2:n.4192A>G
XR_001743483.2:n.5425-4807A>G
XR_001743484.2:n.5357A>G
XR_001743485.2:n.4053A>G
XR_001743486.2:n.5286-4807A>G
XR_001743487.2:n.5479A>G
XR_001743488.1:n.5721A>G
XR_001743489.2:n.5194A>G
XR_001743490.2:n.4175A>G
XR_002956286.1:n.3828A>G
XR_002956287.1:n.3757-4807A>G
NM_001134831.2:c.3557A>G MANE Select	NP_001128303.1:p.Lys1186Arg
NM_001134830.2:c.3557A>G	NP_001128302.1:p.Lys1186Arg
NM_001350503.2:c.3557A>G	NP_001337432.1:p.Lys1186Arg
NM_001350504.2:c.3486-4807A>G	NP_001337433.1:n.3486-4807A>G
NM_017651.5:c.3557A>G	NP_060121.3:p.Lys1186Arg