Canonical Allele Identifier: CA10621494

Gene: AHI1

Linked Data

• ClinVar Variation Id: 355481
• ClinVar RCV Id: RCV000272878
• dbSNP Id: rs886061102
• gnomAD v3: 6-135284328-T-C
• gnomAD v4: 6-135284328-T-C
• MyVariant Identifiers: chr6:g.135605466T>C (hg19) ; chr6:g.135284328T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135284328T>C , CM000668.2:g.135284328T>C	GRCh38
NC_000006.11:g.135605466T>C , CM000668.1:g.135605466T>C	GRCh37
NC_000006.10:g.135647159T>C	NCBI36
NG_008643.1:g.218438A>G
NG_008643.2:g.218438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.*1317A>G MANE Select	ENSP00000265602.6:n.*1317A>G
ENST00000498558.6:n.1949A>G
ENST00000527681.2:c.2577A>G
ENST00000679490.1:n.4283A>G
ENST00000679502.1:n.3680A>G
ENST00000679668.1:c.6440A>G	ENSP00000505364.1:n.6440A>G
ENST00000679672.1:c.*2883A>G	ENSP00000505697.1:n.*2883A>G
ENST00000679711.1:c.3202A>G
ENST00000679742.1:c.6215A>G	ENSP00000504890.1:n.6215A>G
ENST00000679925.1:c.*1298A>G	ENSP00000505502.1:n.*1298A>G
ENST00000680071.1:n.5681A>G
ENST00000680119.1:c.5133A>G	ENSP00000506403.1:n.5133A>G
ENST00000680337.1:c.2263A>G
ENST00000680561.1:n.7548A>G
ENST00000680826.1:c.5093A>G	ENSP00000505224.1:n.5093A>G
ENST00000680840.1:c.5136A>G	ENSP00000505809.1:n.5136A>G
ENST00000680965.1:c.*2362A>G	ENSP00000505398.1:n.*2362A>G
ENST00000681022.1:c.*1317A>G	ENSP00000505121.1:n.*1317A>G
ENST00000681196.1:n.5578A>G
ENST00000681331.1:n.2637A>G
ENST00000681332.1:n.5425A>G
ENST00000681365.1:c.*1317A>G	ENSP00000506604.1:n.*1317A>G
ENST00000681522.1:c.*1317A>G	ENSP00000506005.1:n.*1317A>G
ENST00000681556.1:n.5042A>G
ENST00000681718.1:c.*3395A>G	ENSP00000505266.1:n.*3395A>G
ENST00000681754.1:n.5596A>G
ENST00000681828.1:c.6464A>G	ENSP00000505608.1:n.6464A>G
ENST00000681841.1:c.*1317A>G	ENSP00000504965.1:n.*1317A>G
ENST00000681860.1:c.4724A>G	ENSP00000506250.1:n.4724A>G
ENST00000367800.8:c.*1317A>G	ENSP00000356774.4:n.*1317A>G
ENST00000457866.6:c.*1317A>G	ENSP00000388650.2:n.*1317A>G
NM_001134830.1:c.*1317A>G	NP_001128302.1:n.*1317A>G
NM_001134831.1:c.*1317A>G	NP_001128303.1:n.*1317A>G
NM_017651.4:c.*1317A>G	NP_060121.3:n.*1317A>G
XM_011535910.1:c.*1317A>G	XP_011534212.1:n.*1317A>G
XM_011535911.1:c.*1317A>G	XP_011534213.1:n.*1317A>G
XM_011535915.1:c.*1298A>G	XP_011534217.1:n.*1298A>G
XR_942488.1:n.6750A>G
XR_942493.1:n.6611A>G
XR_942494.1:n.6448A>G
NM_001350503.1:c.*1317A>G	NP_001337432.1:n.*1317A>G
NM_001350504.1:c.*1298A>G	NP_001337433.1:n.*1298A>G
XR_001743479.2:n.6847A>G
XR_001743480.2:n.5675A>G
XR_001743481.2:n.5640A>G
XR_001743482.2:n.5543A>G
XR_001743483.2:n.6744A>G
XR_001743484.2:n.6708A>G
XR_001743485.2:n.5404A>G
XR_001743486.2:n.6605A>G
XR_001743487.2:n.6830A>G
XR_001743488.1:n.7072A>G
XR_001743489.2:n.6545A>G
XR_001743490.2:n.5526A>G
XR_002956287.1:n.5076A>G
NM_001134831.2:c.*1317A>G MANE Select	NP_001128303.1:n.*1317A>G
NM_001134830.2:c.*1317A>G	NP_001128302.1:n.*1317A>G
NM_001350503.2:c.*1317A>G	NP_001337432.1:n.*1317A>G
NM_001350504.2:c.*1298A>G	NP_001337433.1:n.*1298A>G
NM_017651.5:c.*1317A>G	NP_060121.3:n.*1317A>G