Canonical Allele Identifier: CA4011960

Gene: AHI1

Linked Data

• ClinVar Variation Id: 512616
• ClinVar RCV Id: RCV000608290 ; RCV000861193 ; RCV001157000 ; RCV003980163
• dbSNP Id: rs188583221
• ExAC: 6:135611614 C / A
• gnomAD v2: 6-135611614-C-A
• gnomAD v3: 6-135290476-C-A
• gnomAD v4: 6-135290476-C-A
• MyVariant Identifiers: chr6:g.135611614C>A (hg19) ; chr6:g.135290476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290476C>A , CM000668.2:g.135290476C>A	GRCh38
NC_000006.11:g.135611614C>A , CM000668.1:g.135611614C>A	GRCh37
NC_000006.10:g.135653307C>A	NCBI36
NG_008643.1:g.212290G>T
NG_008643.2:g.212290G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3535G>T MANE Select	ENSP00000265602.6:p.Asp1179Tyr
ENST00000498558.6:n.576G>T
ENST00000527681.2:c.1204G>T
ENST00000679434.1:c.5151G>T	ENSP00000505592.1:n.5151G>T
ENST00000679450.1:c.3274G>T	ENSP00000506494.1:p.Asp1092Tyr
ENST00000679490.1:n.2910G>T
ENST00000679502.1:n.2361-4829G>T
ENST00000679589.1:c.*3563G>T	ENSP00000506644.1:n.*3563G>T
ENST00000679668.1:c.5067G>T	ENSP00000505364.1:n.5067G>T
ENST00000679672.1:c.*1510G>T	ENSP00000505697.1:n.*1510G>T
ENST00000679711.1:c.1829G>T
ENST00000679742.1:c.4896-4829G>T	ENSP00000504890.1:n.4896-4829G>T
ENST00000679890.1:n.2026G>T
ENST00000679925.1:c.3486-4829G>T	ENSP00000505502.1:n.3486-4829G>T
ENST00000679943.1:c.3596G>T	ENSP00000505663.1:n.3596G>T
ENST00000680071.1:n.4308G>T
ENST00000680119.1:c.3760G>T	ENSP00000506403.1:n.3760G>T
ENST00000680328.1:n.644G>T
ENST00000680337.1:c.944-4829G>T
ENST00000680561.1:n.6229-4829G>T
ENST00000680826.1:c.3720G>T	ENSP00000505224.1:n.3720G>T
ENST00000680840.1:c.3763G>T	ENSP00000505809.1:n.3763G>T
ENST00000680965.1:c.*989G>T	ENSP00000505398.1:n.*989G>T
ENST00000681022.1:c.3535G>T	ENSP00000505121.1:p.Asp1179Tyr
ENST00000681057.1:n.2744-4829G>T
ENST00000681196.1:n.4259-4829G>T
ENST00000681301.1:c.3382G>T	ENSP00000505093.1:p.Asp1128Tyr
ENST00000681331.1:n.1264G>T
ENST00000681332.1:n.4052G>T
ENST00000681340.1:c.3535G>T	ENSP00000505666.1:p.Asp1179Tyr
ENST00000681365.1:c.3535G>T	ENSP00000506604.1:p.Asp1179Tyr
ENST00000681488.1:c.3404G>T	ENSP00000505884.1:n.3404G>T
ENST00000681522.1:c.3535G>T	ENSP00000506005.1:p.Asp1179Tyr
ENST00000681556.1:n.3669G>T
ENST00000681718.1:c.*2022G>T	ENSP00000505266.1:n.*2022G>T
ENST00000681754.1:n.4223G>T
ENST00000681828.1:c.5091G>T	ENSP00000505608.1:n.5091G>T
ENST00000681841.1:c.3535G>T	ENSP00000504965.1:p.Asp1179Tyr
ENST00000681860.1:c.3351G>T	ENSP00000506250.1:n.3351G>T
ENST00000265602.10:c.3535G>T	ENSP00000265602.6:p.Asp1179Tyr
ENST00000367799.6:c.1985-4829G>T
ENST00000367800.8:c.3535G>T	ENSP00000356774.4:p.Asp1179Tyr
ENST00000457866.6:c.3535G>T	ENSP00000388650.2:p.Asp1179Tyr
ENST00000475846.6:c.1965G>T
ENST00000487135.1:n.155-4829G>T
ENST00000498558.5:n.384G>T
ENST00000527681.1:c.144G>T
NM_001134830.1:c.3535G>T	NP_001128302.1:p.Asp1179Tyr
NM_001134831.1:c.3535G>T	NP_001128303.1:p.Asp1179Tyr
NM_017651.4:c.3535G>T	NP_060121.3:p.Asp1179Tyr
XM_011535910.1:c.3535G>T	XP_011534212.1:p.Asp1179Tyr
XM_011535911.1:c.3535G>T	XP_011534213.1:p.Asp1179Tyr
XM_011535914.1:c.*56G>T	XP_011534216.1:n.*56G>T
XM_011535915.1:c.3486-4829G>T	XP_011534217.1:n.3486-4829G>T
XR_942488.1:n.5377G>T
XR_942490.1:n.5328-4829G>T
XR_942493.1:n.5238G>T
XR_942494.1:n.5075G>T
NM_001350503.1:c.3535G>T	NP_001337432.1:p.Asp1179Tyr
NM_001350504.1:c.3486-4829G>T	NP_001337433.1:n.3486-4829G>T
XM_011535910.3:c.3535G>T	XP_011534212.1:p.Asp1179Tyr
XM_011535911.3:c.3535G>T	XP_011534213.1:p.Asp1179Tyr
XM_017010980.2:c.*56G>T	XP_016866469.1:n.*56G>T
XM_017010981.2:c.3481G>T	XP_016866470.1:p.Asp1161Tyr
XM_024446479.1:c.3481G>T	XP_024302247.1:p.Asp1161Tyr
XR_001743479.2:n.5474G>T
XR_001743480.2:n.4302G>T
XR_001743481.2:n.4267G>T
XR_001743482.2:n.4170G>T
XR_001743483.2:n.5425-4829G>T
XR_001743484.2:n.5335G>T
XR_001743485.2:n.4031G>T
XR_001743486.2:n.5286-4829G>T
XR_001743487.2:n.5457G>T
XR_001743488.1:n.5699G>T
XR_001743489.2:n.5172G>T
XR_001743490.2:n.4153G>T
XR_002956286.1:n.3806G>T
XR_002956287.1:n.3757-4829G>T
NM_001134831.2:c.3535G>T MANE Select	NP_001128303.1:p.Asp1179Tyr
NM_001134830.2:c.3535G>T	NP_001128302.1:p.Asp1179Tyr
NM_001350503.2:c.3535G>T	NP_001337432.1:p.Asp1179Tyr
NM_001350504.2:c.3486-4829G>T	NP_001337433.1:n.3486-4829G>T
NM_017651.5:c.3535G>T	NP_060121.3:p.Asp1179Tyr