Canonical Allele Identifier: CA10621502

Gene: AHI1

Linked Data

• ClinVar Variation Id: 355486
• ClinVar RCV Id: RCV000376893
• dbSNP Id: rs555215397
• gnomAD v2: 6-135606195-T-C
• gnomAD v3: 6-135285057-T-C
• gnomAD v4: 6-135285057-T-C
• MyVariant Identifiers: chr6:g.135606195T>C (hg19) ; chr6:g.135285057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135285057T>C , CM000668.2:g.135285057T>C	GRCh38
NC_000006.11:g.135606195T>C , CM000668.1:g.135606195T>C	GRCh37
NC_000006.10:g.135647888T>C	NCBI36
NG_008643.1:g.217709A>G
NG_008643.2:g.217709A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.*588A>G MANE Select	ENSP00000265602.6:n.*588A>G
ENST00000498558.6:n.1220A>G
ENST00000527681.2:c.1848A>G
ENST00000679434.1:c.5795A>G	ENSP00000505592.1:n.5795A>G
ENST00000679490.1:n.3554A>G
ENST00000679502.1:n.2951A>G
ENST00000679589.1:c.*4207A>G	ENSP00000506644.1:n.*4207A>G
ENST00000679668.1:c.5711A>G	ENSP00000505364.1:n.5711A>G
ENST00000679672.1:c.*2154A>G	ENSP00000505697.1:n.*2154A>G
ENST00000679711.1:c.2473A>G
ENST00000679742.1:c.5486A>G	ENSP00000504890.1:n.5486A>G
ENST00000679890.1:n.2670A>G
ENST00000679925.1:c.*569A>G	ENSP00000505502.1:n.*569A>G
ENST00000680071.1:n.4952A>G
ENST00000680119.1:c.4404A>G	ENSP00000506403.1:n.4404A>G
ENST00000680337.1:c.1534A>G
ENST00000680561.1:n.6819A>G
ENST00000680826.1:c.4364A>G	ENSP00000505224.1:n.4364A>G
ENST00000680840.1:c.4407A>G	ENSP00000505809.1:n.4407A>G
ENST00000680965.1:c.*1633A>G	ENSP00000505398.1:n.*1633A>G
ENST00000681022.1:c.*588A>G	ENSP00000505121.1:n.*588A>G
ENST00000681196.1:n.4849A>G
ENST00000681331.1:n.1908A>G
ENST00000681332.1:n.4696A>G
ENST00000681340.1:c.*588A>G	ENSP00000505666.1:n.*588A>G
ENST00000681365.1:c.*588A>G	ENSP00000506604.1:n.*588A>G
ENST00000681522.1:c.*588A>G	ENSP00000506005.1:n.*588A>G
ENST00000681556.1:n.4313A>G
ENST00000681718.1:c.*2666A>G	ENSP00000505266.1:n.*2666A>G
ENST00000681754.1:n.4867A>G
ENST00000681828.1:c.5735A>G	ENSP00000505608.1:n.5735A>G
ENST00000681841.1:c.*588A>G	ENSP00000504965.1:n.*588A>G
ENST00000681860.1:c.3995A>G	ENSP00000506250.1:n.3995A>G
ENST00000367800.8:c.*588A>G	ENSP00000356774.4:n.*588A>G
ENST00000457866.6:c.*588A>G	ENSP00000388650.2:n.*588A>G
ENST00000475846.6:c.2759A>G
NM_001134830.1:c.*588A>G	NP_001128302.1:n.*588A>G
NM_001134831.1:c.*588A>G	NP_001128303.1:n.*588A>G
NM_017651.4:c.*588A>G	NP_060121.3:n.*588A>G
XM_011535910.1:c.*588A>G	XP_011534212.1:n.*588A>G
XM_011535911.1:c.*588A>G	XP_011534213.1:n.*588A>G
XM_011535915.1:c.*569A>G	XP_011534217.1:n.*569A>G
XR_942488.1:n.6021A>G
XR_942493.1:n.5882A>G
XR_942494.1:n.5719A>G
NM_001350503.1:c.*588A>G	NP_001337432.1:n.*588A>G
NM_001350504.1:c.*569A>G	NP_001337433.1:n.*569A>G
XM_011535910.3:c.*588A>G	XP_011534212.1:n.*588A>G
XM_017010981.2:c.*588A>G	XP_016866470.1:n.*588A>G
XR_001743479.2:n.6118A>G
XR_001743480.2:n.4946A>G
XR_001743481.2:n.4911A>G
XR_001743482.2:n.4814A>G
XR_001743483.2:n.6015A>G
XR_001743484.2:n.5979A>G
XR_001743485.2:n.4675A>G
XR_001743486.2:n.5876A>G
XR_001743487.2:n.6101A>G
XR_001743488.1:n.6343A>G
XR_001743489.2:n.5816A>G
XR_001743490.2:n.4797A>G
XR_002956286.1:n.4450A>G
XR_002956287.1:n.4347A>G
NM_001134831.2:c.*588A>G MANE Select	NP_001128303.1:n.*588A>G
NM_001134830.2:c.*588A>G	NP_001128302.1:n.*588A>G
NM_001350503.2:c.*588A>G	NP_001337432.1:n.*588A>G
NM_001350504.2:c.*569A>G	NP_001337433.1:n.*569A>G
NM_017651.5:c.*588A>G	NP_060121.3:n.*588A>G