Canonical Allele Identifier: CA10625858

Gene: AHI1

Linked Data

• ClinVar Variation Id: 355490
• ClinVar RCV Id: RCV000279417
• dbSNP Id: rs886061107
• gnomAD v2: 6-135606396-A-C
• gnomAD v3: 6-135285258-A-C
• gnomAD v4: 6-135285258-A-C
• MyVariant Identifiers: chr6:g.135606396A>C (hg19) ; chr6:g.135285258A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135285258A>C , CM000668.2:g.135285258A>C	GRCh38
NC_000006.11:g.135606396A>C , CM000668.1:g.135606396A>C	GRCh37
NC_000006.10:g.135648089A>C	NCBI36
NG_008643.1:g.217508T>G
NG_008643.2:g.217508T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.*387T>G MANE Select	ENSP00000265602.6:n.*387T>G
ENST00000498558.6:n.1019T>G
ENST00000527681.2:c.1647T>G
ENST00000679434.1:c.5594T>G	ENSP00000505592.1:n.5594T>G
ENST00000679490.1:n.3353T>G
ENST00000679502.1:n.2750T>G
ENST00000679589.1:c.*4006T>G	ENSP00000506644.1:n.*4006T>G
ENST00000679668.1:c.5510T>G	ENSP00000505364.1:n.5510T>G
ENST00000679672.1:c.*1953T>G	ENSP00000505697.1:n.*1953T>G
ENST00000679711.1:c.2272T>G
ENST00000679742.1:c.5285T>G	ENSP00000504890.1:n.5285T>G
ENST00000679890.1:n.2469T>G
ENST00000679925.1:c.*368T>G	ENSP00000505502.1:n.*368T>G
ENST00000680071.1:n.4751T>G
ENST00000680119.1:c.4203T>G	ENSP00000506403.1:n.4203T>G
ENST00000680328.1:n.1082T>G
ENST00000680337.1:c.1333T>G
ENST00000680561.1:n.6618T>G
ENST00000680826.1:c.4163T>G	ENSP00000505224.1:n.4163T>G
ENST00000680840.1:c.4206T>G	ENSP00000505809.1:n.4206T>G
ENST00000680965.1:c.*1432T>G	ENSP00000505398.1:n.*1432T>G
ENST00000681022.1:c.*387T>G	ENSP00000505121.1:n.*387T>G
ENST00000681196.1:n.4648T>G
ENST00000681331.1:n.1707T>G
ENST00000681332.1:n.4495T>G
ENST00000681340.1:c.*387T>G	ENSP00000505666.1:n.*387T>G
ENST00000681365.1:c.*387T>G	ENSP00000506604.1:n.*387T>G
ENST00000681522.1:c.*387T>G	ENSP00000506005.1:n.*387T>G
ENST00000681556.1:n.4112T>G
ENST00000681718.1:c.*2465T>G	ENSP00000505266.1:n.*2465T>G
ENST00000681754.1:n.4666T>G
ENST00000681828.1:c.5534T>G	ENSP00000505608.1:n.5534T>G
ENST00000681841.1:c.*387T>G	ENSP00000504965.1:n.*387T>G
ENST00000681860.1:c.3794T>G	ENSP00000506250.1:n.3794T>G
ENST00000367800.8:c.*387T>G	ENSP00000356774.4:n.*387T>G
ENST00000457866.6:c.*387T>G	ENSP00000388650.2:n.*387T>G
ENST00000475846.6:c.2558T>G
ENST00000498558.5:n.827T>G
NM_001134830.1:c.*387T>G	NP_001128302.1:n.*387T>G
NM_001134831.1:c.*387T>G	NP_001128303.1:n.*387T>G
NM_017651.4:c.*387T>G	NP_060121.3:n.*387T>G
XM_011535910.1:c.*387T>G	XP_011534212.1:n.*387T>G
XM_011535911.1:c.*387T>G	XP_011534213.1:n.*387T>G
XM_011535915.1:c.*368T>G	XP_011534217.1:n.*368T>G
XR_942488.1:n.5820T>G
XR_942493.1:n.5681T>G
XR_942494.1:n.5518T>G
NM_001350503.1:c.*387T>G	NP_001337432.1:n.*387T>G
NM_001350504.1:c.*368T>G	NP_001337433.1:n.*368T>G
XM_011535910.3:c.*387T>G	XP_011534212.1:n.*387T>G
XM_017010981.2:c.*387T>G	XP_016866470.1:n.*387T>G
XR_001743479.2:n.5917T>G
XR_001743480.2:n.4745T>G
XR_001743481.2:n.4710T>G
XR_001743482.2:n.4613T>G
XR_001743483.2:n.5814T>G
XR_001743484.2:n.5778T>G
XR_001743485.2:n.4474T>G
XR_001743486.2:n.5675T>G
XR_001743487.2:n.5900T>G
XR_001743488.1:n.6142T>G
XR_001743489.2:n.5615T>G
XR_001743490.2:n.4596T>G
XR_002956286.1:n.4249T>G
XR_002956287.1:n.4146T>G
NM_001134831.2:c.*387T>G MANE Select	NP_001128303.1:n.*387T>G
NM_001134830.2:c.*387T>G	NP_001128302.1:n.*387T>G
NM_001350503.2:c.*387T>G	NP_001337432.1:n.*387T>G
NM_001350504.2:c.*368T>G	NP_001337433.1:n.*368T>G
NM_017651.5:c.*387T>G	NP_060121.3:n.*387T>G