Canonical Allele Identifier: CA379786292

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417160A>T (hg19) ; chr11:g.17395613A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395613A>T , CM000673.2:g.17395613A>T	GRCh38
NC_000011.9:g.17417160A>T , CM000673.1:g.17417160A>T	GRCh37
NC_000011.8:g.17373736A>T	NCBI36
NG_008867.1:g.86290T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3905T>A
ENST00000528374.2:c.895T>A
ENST00000529967.6:n.2643T>A
ENST00000532220.2:n.3537T>A
ENST00000642611.2:n.5637T>A
ENST00000644057.2:n.880T>A
ENST00000645004.2:n.1803T>A
ENST00000682051.1:n.4466T>A
ENST00000682110.1:n.4519T>A
ENST00000682140.1:c.*90T>A	ENSP00000507829.1:n.*90T>A
ENST00000682185.1:n.5609T>A
ENST00000682204.1:c.*2442T>A	ENSP00000507094.1:n.*2442T>A
ENST00000682215.1:n.4886T>A
ENST00000682288.1:c.*2735T>A	ENSP00000507506.1:n.*2735T>A
ENST00000682442.1:n.4739T>A
ENST00000682528.1:n.4596T>A
ENST00000682673.1:n.4463T>A
ENST00000682805.1:n.4924T>A
ENST00000682965.1:c.*726T>A	ENSP00000508229.1:n.*726T>A
ENST00000683093.1:n.5603T>A
ENST00000683136.1:c.4187T>A	ENSP00000507768.1:p.Ile1396Asn
ENST00000683153.1:n.4561T>A
ENST00000683365.1:n.4621T>A
ENST00000683377.1:n.4519T>A
ENST00000683456.1:c.*1441T>A	ENSP00000508318.1:n.*1441T>A
ENST00000683522.1:n.4519T>A
ENST00000683562.1:c.*2473T>A	ENSP00000508265.1:n.*2473T>A
ENST00000683693.1:n.6084T>A
ENST00000683725.1:c.4304T>A	ENSP00000507496.1:p.Ile1435Asn
ENST00000684010.1:n.4514T>A
ENST00000684157.1:n.5504T>A
ENST00000684253.1:n.4422T>A
ENST00000684288.1:c.*2476T>A	ENSP00000507143.1:n.*2476T>A
ENST00000684313.1:n.3951T>A
ENST00000684332.1:n.4592T>A
ENST00000684371.1:n.4625T>A
ENST00000684404.1:n.5547T>A
ENST00000684442.1:n.4743T>A
ENST00000684555.1:c.*2516T>A	ENSP00000507705.1:n.*2516T>A
ENST00000684571.1:c.4145T>A	ENSP00000506935.1:p.Ile1382Asn
ENST00000684593.1:c.*4009T>A	ENSP00000507005.1:n.*4009T>A
ENST00000684711.1:c.*2700T>A	ENSP00000506841.1:n.*2700T>A
ENST00000302539.9:c.4307T>A	ENSP00000303960.4:p.Ile1436Asn
ENST00000389817.8:c.4304T>A MANE Select	ENSP00000374467.4:p.Ile1435Asn
ENST00000642271.1:c.4301T>A	ENSP00000493749.1:p.Ile1434Asn
ENST00000642579.1:c.2358T>A
ENST00000642611.1:n.5522T>A
ENST00000642902.1:c.4086T>A
ENST00000643260.1:c.4304T>A	ENSP00000494450.1:p.Ile1435Asn
ENST00000643562.1:c.*2426T>A	ENSP00000496124.1:n.*2426T>A
ENST00000643925.1:c.2944T>A
ENST00000644057.1:n.381T>A
ENST00000644484.1:c.*3690T>A	ENSP00000493558.1:n.*3690T>A
ENST00000644675.1:c.*2476T>A	ENSP00000494567.1:n.*2476T>A
ENST00000644757.1:c.*3202+651T>A	ENSP00000495085.1:n.*3202+651T>A
ENST00000644772.1:c.4370T>A	ENSP00000494321.1:p.Ile1457Asn
ENST00000645004.1:n.1997T>A
ENST00000645076.1:c.3503T>A
ENST00000645417.1:c.1492T>A
ENST00000645744.1:c.*3989T>A	ENSP00000494564.1:n.*3989T>A
ENST00000645760.1:c.4725T>A
ENST00000645884.1:c.*1587T>A	ENSP00000495516.1:n.*1587T>A
ENST00000646003.1:c.*2326T>A	ENSP00000495259.1:n.*2326T>A
ENST00000646207.1:c.*3141T>A	ENSP00000495025.1:n.*3141T>A
ENST00000646276.1:c.*3708T>A	ENSP00000496070.1:n.*3708T>A
ENST00000646592.1:c.3610T>A
ENST00000646902.1:c.4271T>A	ENSP00000494101.1:p.Ile1424Asn
ENST00000646993.1:c.*2846T>A	ENSP00000493720.1:n.*2846T>A
ENST00000647013.1:c.4310T>A	ENSP00000496741.1:n.4310T>A
ENST00000647015.1:c.4055T>A	ENSP00000495389.1:p.Ile1352Asn
ENST00000647086.1:c.*3890T>A	ENSP00000493677.1:n.*3890T>A
ENST00000647158.1:c.*2591T>A	ENSP00000495744.1:n.*2591T>A
ENST00000302539.8:c.4307T>A	ENSP00000303960.4:p.Ile1436Asn
ENST00000389817.7:c.4304T>A	ENSP00000374467.3:p.Ile1435Asn
ENST00000525022.1:n.303T>A
ENST00000526037.5:n.168T>A
ENST00000526168.5:c.92T>A
ENST00000531642.5:c.140T>A
NM_000352.4:c.4304T>A	NP_000343.2:p.Ile1435Asn
NM_001287174.1:c.4307T>A	NP_001274103.1:p.Ile1436Asn
XM_011520331.1:c.4304T>A	XP_011518633.1:p.Ile1435Asn
XM_011520332.1:c.4307T>A	XP_011518634.1:p.Ile1436Asn
XM_011520333.1:c.2804T>A	XP_011518635.1:p.Ile935Asn
XR_930890.1:n.4370T>A
NM_001351295.1:c.4370T>A	NP_001338224.1:p.Ile1457Asn
NM_001351296.1:c.4304T>A	NP_001338225.1:p.Ile1435Asn
NM_001351297.1:c.4301T>A	NP_001338226.1:p.Ile1434Asn
NR_147094.1:n.4599T>A
XM_017018197.2:c.4373T>A	XP_016873686.1:p.Ile1458Asn
XM_017018199.1:c.4370T>A	XP_016873688.1:p.Ile1457Asn
XM_017018201.2:c.4373T>A	XP_016873690.1:p.Ile1458Asn
XM_017018202.1:c.2870T>A	XP_016873691.1:p.Ile957Asn
XM_017018204.1:c.2261T>A	XP_016873693.1:p.Ile754Asn
XM_024448668.1:c.2672T>A	XP_024304436.1:p.Ile891Asn
XR_001747945.2:n.4445T>A
XR_001747946.2:n.4376T>A
XR_002957189.1:n.6159T>A
NM_000352.6:c.4304T>A MANE Select	NP_000343.2:p.Ile1435Asn
NM_001287174.2:c.4307T>A	NP_001274103.1:p.Ile1436Asn
NM_001351295.2:c.4370T>A	NP_001338224.1:p.Ile1457Asn
NM_001351296.2:c.4304T>A	NP_001338225.1:p.Ile1435Asn
NM_001351297.2:c.4301T>A	NP_001338226.1:p.Ile1434Asn
NR_147094.2:n.4599T>A
NM_001287174.3:c.4307T>A	NP_001274103.1:p.Ile1436Asn