Canonical Allele Identifier: CA4011951

Gene: AHI1

Linked Data

• ClinVar Variation Id: 842041
• ClinVar RCV Id: RCV001044384 ; RCV001788407 ; RCV002481912 ; RCV003243420
• dbSNP Id: rs776098993
• ExAC: 6:135611566 T / C
• gnomAD v2: 6-135611566-T-C
• gnomAD v4: 6-135290428-T-C
• MyVariant Identifiers: chr6:g.135611566T>C (hg19) ; chr6:g.135290428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290428T>C , CM000668.2:g.135290428T>C	GRCh38
NC_000006.11:g.135611566T>C , CM000668.1:g.135611566T>C	GRCh37
NC_000006.10:g.135653259T>C	NCBI36
NG_008643.1:g.212338A>G
NG_008643.2:g.212338A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3583A>G MANE Select	ENSP00000265602.6:p.Ile1195Val
ENST00000498558.6:n.624A>G
ENST00000527681.2:c.1252A>G
ENST00000679434.1:c.5199A>G	ENSP00000505592.1:n.5199A>G
ENST00000679450.1:c.3322A>G	ENSP00000506494.1:p.Ile1108Val
ENST00000679490.1:n.2958A>G
ENST00000679502.1:n.2361-4781A>G
ENST00000679589.1:c.*3611A>G	ENSP00000506644.1:n.*3611A>G
ENST00000679668.1:c.5115A>G	ENSP00000505364.1:n.5115A>G
ENST00000679672.1:c.*1558A>G	ENSP00000505697.1:n.*1558A>G
ENST00000679711.1:c.1877A>G
ENST00000679742.1:c.4896-4781A>G	ENSP00000504890.1:n.4896-4781A>G
ENST00000679890.1:n.2074A>G
ENST00000679925.1:c.3486-4781A>G	ENSP00000505502.1:n.3486-4781A>G
ENST00000679943.1:c.3644A>G	ENSP00000505663.1:n.3644A>G
ENST00000680071.1:n.4356A>G
ENST00000680119.1:c.3808A>G	ENSP00000506403.1:n.3808A>G
ENST00000680328.1:n.692A>G
ENST00000680337.1:c.944-4781A>G
ENST00000680561.1:n.6229-4781A>G
ENST00000680826.1:c.3768A>G	ENSP00000505224.1:n.3768A>G
ENST00000680840.1:c.3811A>G	ENSP00000505809.1:n.3811A>G
ENST00000680965.1:c.*1037A>G	ENSP00000505398.1:n.*1037A>G
ENST00000681022.1:c.3583A>G	ENSP00000505121.1:p.Ile1195Val
ENST00000681057.1:n.2744-4781A>G
ENST00000681196.1:n.4259-4781A>G
ENST00000681301.1:c.3430A>G	ENSP00000505093.1:p.Ile1144Val
ENST00000681331.1:n.1312A>G
ENST00000681332.1:n.4100A>G
ENST00000681340.1:c.3583A>G	ENSP00000505666.1:p.Ile1195Val
ENST00000681365.1:c.3583A>G	ENSP00000506604.1:p.Ile1195Val
ENST00000681488.1:c.3452A>G	ENSP00000505884.1:n.3452A>G
ENST00000681522.1:c.3583A>G	ENSP00000506005.1:p.Ile1195Val
ENST00000681556.1:n.3717A>G
ENST00000681718.1:c.*2070A>G	ENSP00000505266.1:n.*2070A>G
ENST00000681754.1:n.4271A>G
ENST00000681828.1:c.5139A>G	ENSP00000505608.1:n.5139A>G
ENST00000681841.1:c.3583A>G	ENSP00000504965.1:p.Ile1195Val
ENST00000681860.1:c.3399A>G	ENSP00000506250.1:n.3399A>G
ENST00000265602.10:c.3583A>G	ENSP00000265602.6:p.Ile1195Val
ENST00000367799.6:c.1985-4781A>G
ENST00000367800.8:c.3583A>G	ENSP00000356774.4:p.Ile1195Val
ENST00000457866.6:c.3583A>G	ENSP00000388650.2:p.Ile1195Val
ENST00000475846.6:c.2013A>G
ENST00000487135.1:n.155-4781A>G
ENST00000498558.5:n.432A>G
ENST00000527681.1:c.192A>G
NM_001134830.1:c.3583A>G	NP_001128302.1:p.Ile1195Val
NM_001134831.1:c.3583A>G	NP_001128303.1:p.Ile1195Val
NM_017651.4:c.3583A>G	NP_060121.3:p.Ile1195Val
XM_011535910.1:c.3583A>G	XP_011534212.1:p.Ile1195Val
XM_011535911.1:c.3583A>G	XP_011534213.1:p.Ile1195Val
XM_011535915.1:c.3486-4781A>G	XP_011534217.1:n.3486-4781A>G
XR_942488.1:n.5425A>G
XR_942490.1:n.5328-4781A>G
XR_942493.1:n.5286A>G
XR_942494.1:n.5123A>G
NM_001350503.1:c.3583A>G	NP_001337432.1:p.Ile1195Val
NM_001350504.1:c.3486-4781A>G	NP_001337433.1:n.3486-4781A>G
XM_011535910.3:c.3583A>G	XP_011534212.1:p.Ile1195Val
XM_011535911.3:c.3583A>G	XP_011534213.1:p.Ile1195Val
XM_017010980.2:c.*104A>G	XP_016866469.1:n.*104A>G
XM_017010981.2:c.3529A>G	XP_016866470.1:p.Ile1177Val
XM_024446479.1:c.3529A>G	XP_024302247.1:p.Ile1177Val
XR_001743479.2:n.5522A>G
XR_001743480.2:n.4350A>G
XR_001743481.2:n.4315A>G
XR_001743482.2:n.4218A>G
XR_001743483.2:n.5425-4781A>G
XR_001743484.2:n.5383A>G
XR_001743485.2:n.4079A>G
XR_001743486.2:n.5286-4781A>G
XR_001743487.2:n.5505A>G
XR_001743488.1:n.5747A>G
XR_001743489.2:n.5220A>G
XR_001743490.2:n.4201A>G
XR_002956286.1:n.3854A>G
XR_002956287.1:n.3757-4781A>G
NM_001134831.2:c.3583A>G MANE Select	NP_001128303.1:p.Ile1195Val
NM_001134830.2:c.3583A>G	NP_001128302.1:p.Ile1195Val
NM_001350503.2:c.3583A>G	NP_001337432.1:p.Ile1195Val
NM_001350504.2:c.3486-4781A>G	NP_001337433.1:n.3486-4781A>G
NM_017651.5:c.3583A>G	NP_060121.3:p.Ile1195Val