Canonical Allele Identifier: CA379785363

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17416763A>T (hg19) ; chr11:g.17395216A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395216A>T , CM000673.2:g.17395216A>T	GRCh38
NC_000011.9:g.17416763A>T , CM000673.1:g.17416763A>T	GRCh37
NC_000011.8:g.17373339A>T	NCBI36
NG_008867.1:g.86687T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3968T>A
ENST00000526037.6:n.302T>A
ENST00000528374.2:c.958T>A
ENST00000529967.6:n.2706T>A
ENST00000532220.2:n.3600T>A
ENST00000642611.2:n.5700T>A
ENST00000644057.2:n.943T>A
ENST00000645004.2:n.1866T>A
ENST00000682051.1:n.4529T>A
ENST00000682110.1:n.4582T>A
ENST00000682140.1:c.*153T>A	ENSP00000507829.1:n.*153T>A
ENST00000682185.1:n.5672T>A
ENST00000682204.1:c.*2505T>A	ENSP00000507094.1:n.*2505T>A
ENST00000682215.1:n.4949T>A
ENST00000682288.1:c.*2798T>A	ENSP00000507506.1:n.*2798T>A
ENST00000682442.1:n.4802T>A
ENST00000682528.1:n.4659T>A
ENST00000682673.1:n.4526T>A
ENST00000682805.1:n.4987T>A
ENST00000682965.1:c.*789T>A	ENSP00000508229.1:n.*789T>A
ENST00000683093.1:n.5606+394T>A
ENST00000683136.1:c.4250T>A	ENSP00000507768.1:p.Ile1417Asn
ENST00000683153.1:n.4624T>A
ENST00000683365.1:n.4684T>A
ENST00000683377.1:n.4522+394T>A
ENST00000683456.1:c.*1504T>A	ENSP00000508318.1:n.*1504T>A
ENST00000683522.1:n.4582T>A
ENST00000683562.1:c.*2476+394T>A	ENSP00000508265.1:n.*2476+394T>A
ENST00000683693.1:n.6087+394T>A
ENST00000683725.1:c.4307+394T>A	ENSP00000507496.1:n.4307+394T>A
ENST00000684010.1:n.4577T>A
ENST00000684157.1:n.5567T>A
ENST00000684253.1:n.4485T>A
ENST00000684288.1:c.*2539T>A	ENSP00000507143.1:n.*2539T>A
ENST00000684313.1:n.4014T>A
ENST00000684332.1:n.4655T>A
ENST00000684371.1:n.4688T>A
ENST00000684404.1:n.5610T>A
ENST00000684442.1:n.4806T>A
ENST00000684555.1:c.*2579T>A	ENSP00000507705.1:n.*2579T>A
ENST00000684571.1:c.4208T>A	ENSP00000506935.1:p.Ile1403Asn
ENST00000684593.1:c.*4072T>A	ENSP00000507005.1:n.*4072T>A
ENST00000684711.1:c.*2763T>A	ENSP00000506841.1:n.*2763T>A
ENST00000302539.9:c.4370T>A	ENSP00000303960.4:p.Ile1457Asn
ENST00000389817.8:c.4367T>A MANE Select	ENSP00000374467.4:p.Ile1456Asn
ENST00000642271.1:c.4364T>A	ENSP00000493749.1:p.Ile1455Asn
ENST00000642579.1:c.2421T>A
ENST00000642611.1:n.5585T>A
ENST00000642902.1:c.4149T>A
ENST00000643260.1:c.4367T>A	ENSP00000494450.1:p.Ile1456Asn
ENST00000643562.1:c.*2489T>A	ENSP00000496124.1:n.*2489T>A
ENST00000643925.1:c.3007T>A
ENST00000644057.1:n.444T>A
ENST00000644484.1:c.*3753T>A	ENSP00000493558.1:n.*3753T>A
ENST00000644675.1:c.*2539T>A	ENSP00000494567.1:n.*2539T>A
ENST00000644757.1:c.*3202+1048T>A	ENSP00000495085.1:n.*3202+1048T>A
ENST00000644772.1:c.4433T>A	ENSP00000494321.1:p.Ile1478Asn
ENST00000645004.1:n.2060T>A
ENST00000645076.1:c.3506+394T>A
ENST00000645417.1:c.1555T>A
ENST00000645744.1:c.*4052T>A	ENSP00000494564.1:n.*4052T>A
ENST00000645760.1:c.4788T>A
ENST00000645884.1:c.*1650T>A	ENSP00000495516.1:n.*1650T>A
ENST00000646003.1:c.*2389T>A	ENSP00000495259.1:n.*2389T>A
ENST00000646207.1:c.*3204T>A	ENSP00000495025.1:n.*3204T>A
ENST00000646276.1:c.*3771T>A	ENSP00000496070.1:n.*3771T>A
ENST00000646592.1:c.3673T>A
ENST00000646902.1:c.4334T>A	ENSP00000494101.1:p.Ile1445Asn
ENST00000646993.1:c.*2849+394T>A	ENSP00000493720.1:n.*2849+394T>A
ENST00000647013.1:c.4373T>A	ENSP00000496741.1:n.4373T>A
ENST00000647015.1:c.4118T>A	ENSP00000495389.1:p.Ile1373Asn
ENST00000647086.1:c.*3953T>A	ENSP00000493677.1:n.*3953T>A
ENST00000647158.1:c.*2654T>A	ENSP00000495744.1:n.*2654T>A
ENST00000302539.8:c.4370T>A	ENSP00000303960.4:p.Ile1457Asn
ENST00000389817.7:c.4367T>A	ENSP00000374467.3:p.Ile1456Asn
ENST00000525022.1:n.306+394T>A
ENST00000526037.5:n.171+394T>A
ENST00000526168.5:c.155T>A
ENST00000531642.5:c.398T>A
NM_000352.4:c.4367T>A	NP_000343.2:p.Ile1456Asn
NM_001287174.1:c.4370T>A	NP_001274103.1:p.Ile1457Asn
XM_011520331.1:c.4367T>A	XP_011518633.1:p.Ile1456Asn
XM_011520332.1:c.4310+394T>A	XP_011518634.1:n.4310+394T>A
XM_011520333.1:c.2867T>A	XP_011518635.1:p.Ile956Asn
XR_930890.1:n.4373+394T>A
NM_001351295.1:c.4433T>A	NP_001338224.1:p.Ile1478Asn
NM_001351296.1:c.4367T>A	NP_001338225.1:p.Ile1456Asn
NM_001351297.1:c.4364T>A	NP_001338226.1:p.Ile1455Asn
NR_147094.1:n.4662T>A
XM_017018197.2:c.4436T>A	XP_016873686.1:p.Ile1479Asn
XM_017018199.1:c.4433T>A	XP_016873688.1:p.Ile1478Asn
XM_017018201.2:c.4376+394T>A	XP_016873690.1:n.4376+394T>A
XM_017018202.1:c.2933T>A	XP_016873691.1:p.Ile978Asn
XM_017018204.1:c.2324T>A	XP_016873693.1:p.Ile775Asn
XM_024448668.1:c.2735T>A	XP_024304436.1:p.Ile912Asn
XR_001747945.2:n.4448+394T>A
XR_001747946.2:n.4379+394T>A
XR_002957189.1:n.6162+394T>A
NM_000352.6:c.4367T>A MANE Select	NP_000343.2:p.Ile1456Asn
NM_001287174.2:c.4370T>A	NP_001274103.1:p.Ile1457Asn
NM_001351295.2:c.4433T>A	NP_001338224.1:p.Ile1478Asn
NM_001351296.2:c.4367T>A	NP_001338225.1:p.Ile1456Asn
NM_001351297.2:c.4364T>A	NP_001338226.1:p.Ile1455Asn
NR_147094.2:n.4662T>A
NM_001287174.3:c.4370T>A	NP_001274103.1:p.Ile1457Asn