Canonical Allele Identifier: CA379787957

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395876-A-T
• MyVariant Identifiers: chr11:g.17417423A>T (hg19) ; chr11:g.17395876A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395876A>T , CM000673.2:g.17395876A>T	GRCh38
NC_000011.9:g.17417423A>T , CM000673.1:g.17417423A>T	GRCh37
NC_000011.8:g.17373999A>T	NCBI36
NG_008867.1:g.86027T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3775T>A
ENST00000528374.2:c.765T>A
ENST00000529967.6:n.2513T>A
ENST00000532220.2:n.3407T>A
ENST00000642611.2:n.5374T>A
ENST00000644057.2:n.617T>A
ENST00000645004.2:n.1673T>A
ENST00000682051.1:n.4336T>A
ENST00000682110.1:n.4389T>A
ENST00000682140.1:c.4040T>A	ENSP00000507829.1:p.Leu1347His
ENST00000682185.1:n.5479T>A
ENST00000682204.1:c.*2312T>A	ENSP00000507094.1:n.*2312T>A
ENST00000682215.1:n.4756T>A
ENST00000682288.1:c.*2605T>A	ENSP00000507506.1:n.*2605T>A
ENST00000682442.1:n.4609T>A
ENST00000682528.1:n.4466T>A
ENST00000682673.1:n.4333T>A
ENST00000682805.1:n.4794T>A
ENST00000682965.1:c.*596T>A	ENSP00000508229.1:n.*596T>A
ENST00000683093.1:n.5473T>A
ENST00000683136.1:c.4057T>A	ENSP00000507768.1:p.Phe1353Ile
ENST00000683153.1:n.4431T>A
ENST00000683365.1:n.4491T>A
ENST00000683377.1:n.4389T>A
ENST00000683456.1:c.*1311T>A	ENSP00000508318.1:n.*1311T>A
ENST00000683522.1:n.4389T>A
ENST00000683562.1:c.*2343T>A	ENSP00000508265.1:n.*2343T>A
ENST00000683693.1:n.5821T>A
ENST00000683725.1:c.4174T>A	ENSP00000507496.1:p.Phe1392Ile
ENST00000684010.1:n.4384T>A
ENST00000684157.1:n.5374T>A
ENST00000684253.1:n.4292T>A
ENST00000684288.1:c.*2346T>A	ENSP00000507143.1:n.*2346T>A
ENST00000684313.1:n.3821T>A
ENST00000684332.1:n.4462T>A
ENST00000684371.1:n.4495T>A
ENST00000684404.1:n.5417T>A
ENST00000684442.1:n.4613T>A
ENST00000684555.1:c.*2386T>A	ENSP00000507705.1:n.*2386T>A
ENST00000684571.1:c.4015T>A	ENSP00000506935.1:p.Phe1339Ile
ENST00000684593.1:c.*3879T>A	ENSP00000507005.1:n.*3879T>A
ENST00000684711.1:c.*2570T>A	ENSP00000506841.1:n.*2570T>A
ENST00000302539.9:c.4177T>A	ENSP00000303960.4:p.Phe1393Ile
ENST00000389817.8:c.4174T>A MANE Select	ENSP00000374467.4:p.Phe1392Ile
ENST00000642271.1:c.4171T>A	ENSP00000493749.1:p.Phe1391Ile
ENST00000642579.1:c.2228T>A
ENST00000642611.1:n.5259T>A
ENST00000642902.1:c.3956T>A
ENST00000643260.1:c.4174T>A	ENSP00000494450.1:p.Phe1392Ile
ENST00000643562.1:c.*2296T>A	ENSP00000496124.1:n.*2296T>A
ENST00000643925.1:c.2814T>A
ENST00000644057.1:n.251T>A
ENST00000644484.1:c.*3560T>A	ENSP00000493558.1:n.*3560T>A
ENST00000644675.1:c.*2346T>A	ENSP00000494567.1:n.*2346T>A
ENST00000644757.1:c.*3202+388T>A	ENSP00000495085.1:n.*3202+388T>A
ENST00000644772.1:c.4240T>A	ENSP00000494321.1:p.Phe1414Ile
ENST00000645004.1:n.1867T>A
ENST00000645076.1:c.3373T>A
ENST00000645417.1:c.1362T>A
ENST00000645744.1:c.*3939T>A	ENSP00000494564.1:n.*3939T>A
ENST00000645760.1:c.4595T>A
ENST00000645884.1:c.*1457T>A	ENSP00000495516.1:n.*1457T>A
ENST00000646003.1:c.*2276T>A	ENSP00000495259.1:n.*2276T>A
ENST00000646207.1:c.*3011T>A	ENSP00000495025.1:n.*3011T>A
ENST00000646276.1:c.*3578T>A	ENSP00000496070.1:n.*3578T>A
ENST00000646592.1:c.3480T>A
ENST00000646902.1:c.4141T>A	ENSP00000494101.1:p.Phe1381Ile
ENST00000646993.1:c.*2716T>A	ENSP00000493720.1:n.*2716T>A
ENST00000647013.1:c.4180T>A	ENSP00000496741.1:n.4180T>A
ENST00000647015.1:c.3925T>A	ENSP00000495389.1:p.Phe1309Ile
ENST00000647086.1:c.*3760T>A	ENSP00000493677.1:n.*3760T>A
ENST00000647158.1:c.*2461T>A	ENSP00000495744.1:n.*2461T>A
ENST00000302539.8:c.4177T>A	ENSP00000303960.4:p.Phe1393Ile
ENST00000389817.7:c.4174T>A	ENSP00000374467.3:p.Phe1392Ile
ENST00000525022.1:n.40T>A
ENST00000526168.5:c.42T>A
ENST00000531642.5:c.10T>A
NM_000352.4:c.4174T>A	NP_000343.2:p.Phe1392Ile
NM_001287174.1:c.4177T>A	NP_001274103.1:p.Phe1393Ile
XM_011520331.1:c.4174T>A	XP_011518633.1:p.Phe1392Ile
XM_011520332.1:c.4177T>A	XP_011518634.1:p.Phe1393Ile
XM_011520333.1:c.2674T>A	XP_011518635.1:p.Phe892Ile
XR_930890.1:n.4240T>A
NM_001351295.1:c.4240T>A	NP_001338224.1:p.Phe1414Ile
NM_001351296.1:c.4174T>A	NP_001338225.1:p.Phe1392Ile
NM_001351297.1:c.4171T>A	NP_001338226.1:p.Phe1391Ile
NR_147094.1:n.4469T>A
XM_017018197.2:c.4243T>A	XP_016873686.1:p.Phe1415Ile
XM_017018199.1:c.4240T>A	XP_016873688.1:p.Phe1414Ile
XM_017018201.2:c.4243T>A	XP_016873690.1:p.Phe1415Ile
XM_017018202.1:c.2740T>A	XP_016873691.1:p.Phe914Ile
XM_017018204.1:c.2131T>A	XP_016873693.1:p.Phe711Ile
XM_024448668.1:c.2542T>A	XP_024304436.1:p.Phe848Ile
XR_001747945.2:n.4315T>A
XR_001747946.2:n.4246T>A
XR_002957189.1:n.5896T>A
NM_000352.6:c.4174T>A MANE Select	NP_000343.2:p.Phe1392Ile
NM_001287174.2:c.4177T>A	NP_001274103.1:p.Phe1393Ile
NM_001351295.2:c.4240T>A	NP_001338224.1:p.Phe1414Ile
NM_001351296.2:c.4174T>A	NP_001338225.1:p.Phe1392Ile
NM_001351297.2:c.4171T>A	NP_001338226.1:p.Phe1391Ile
NR_147094.2:n.4469T>A
NM_001287174.3:c.4177T>A	NP_001274103.1:p.Phe1393Ile