Canonical Allele Identifier: CA473298208

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395627-G-T
• MyVariant Identifiers: chr11:g.17417174G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395627G>T , CM000673.2:g.17395627G>T	GRCh38
NC_000011.9:g.17417174G>T , CM000673.1:g.17417174G>T	GRCh37
NC_000011.8:g.17373750G>T	NCBI36
NG_008867.1:g.86276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3891C>A
ENST00000528374.2:c.881C>A
ENST00000529967.6:n.2629C>A
ENST00000532220.2:n.3523C>A
ENST00000642611.2:n.5623C>A
ENST00000644057.2:n.866C>A
ENST00000645004.2:n.1789C>A
ENST00000682051.1:n.4452C>A
ENST00000682110.1:n.4505C>A
ENST00000682140.1:c.*76C>A	ENSP00000507829.1:n.*76C>A
ENST00000682185.1:n.5595C>A
ENST00000682204.1:c.*2428C>A	ENSP00000507094.1:n.*2428C>A
ENST00000682215.1:n.4872C>A
ENST00000682288.1:c.*2721C>A	ENSP00000507506.1:n.*2721C>A
ENST00000682442.1:n.4725C>A
ENST00000682528.1:n.4582C>A
ENST00000682673.1:n.4449C>A
ENST00000682805.1:n.4910C>A
ENST00000682965.1:c.*712C>A	ENSP00000508229.1:n.*712C>A
ENST00000683093.1:n.5589C>A
ENST00000683136.1:c.4173C>A	ENSP00000507768.1:p.Leu1391=
ENST00000683153.1:n.4547C>A
ENST00000683365.1:n.4607C>A
ENST00000683377.1:n.4505C>A
ENST00000683456.1:c.*1427C>A	ENSP00000508318.1:n.*1427C>A
ENST00000683522.1:n.4505C>A
ENST00000683562.1:c.*2459C>A	ENSP00000508265.1:n.*2459C>A
ENST00000683693.1:n.6070C>A
ENST00000683725.1:c.4290C>A	ENSP00000507496.1:p.Leu1430=
ENST00000684010.1:n.4500C>A
ENST00000684157.1:n.5490C>A
ENST00000684253.1:n.4408C>A
ENST00000684288.1:c.*2462C>A	ENSP00000507143.1:n.*2462C>A
ENST00000684313.1:n.3937C>A
ENST00000684332.1:n.4578C>A
ENST00000684371.1:n.4611C>A
ENST00000684404.1:n.5533C>A
ENST00000684442.1:n.4729C>A
ENST00000684555.1:c.*2502C>A	ENSP00000507705.1:n.*2502C>A
ENST00000684571.1:c.4131C>A	ENSP00000506935.1:p.Leu1377=
ENST00000684593.1:c.*3995C>A	ENSP00000507005.1:n.*3995C>A
ENST00000684711.1:c.*2686C>A	ENSP00000506841.1:n.*2686C>A
ENST00000302539.9:c.4293C>A	ENSP00000303960.4:p.Leu1431=
ENST00000389817.8:c.4290C>A MANE Select	ENSP00000374467.4:p.Leu1430=
ENST00000642271.1:c.4287C>A	ENSP00000493749.1:p.Leu1429=
ENST00000642579.1:c.2344C>A
ENST00000642611.1:n.5508C>A
ENST00000642902.1:c.4072C>A
ENST00000643260.1:c.4290C>A	ENSP00000494450.1:p.Leu1430=
ENST00000643562.1:c.*2412C>A	ENSP00000496124.1:n.*2412C>A
ENST00000643925.1:c.2930C>A
ENST00000644057.1:n.367C>A
ENST00000644484.1:c.*3676C>A	ENSP00000493558.1:n.*3676C>A
ENST00000644675.1:c.*2462C>A	ENSP00000494567.1:n.*2462C>A
ENST00000644757.1:c.*3202+637C>A	ENSP00000495085.1:n.*3202+637C>A
ENST00000644772.1:c.4356C>A	ENSP00000494321.1:p.Leu1452=
ENST00000645004.1:n.1983C>A
ENST00000645076.1:c.3489C>A
ENST00000645417.1:c.1478C>A
ENST00000645744.1:c.*3975C>A	ENSP00000494564.1:n.*3975C>A
ENST00000645760.1:c.4711C>A
ENST00000645884.1:c.*1573C>A	ENSP00000495516.1:n.*1573C>A
ENST00000646003.1:c.*2312C>A	ENSP00000495259.1:n.*2312C>A
ENST00000646207.1:c.*3127C>A	ENSP00000495025.1:n.*3127C>A
ENST00000646276.1:c.*3694C>A	ENSP00000496070.1:n.*3694C>A
ENST00000646592.1:c.3596C>A
ENST00000646902.1:c.4257C>A	ENSP00000494101.1:p.Leu1419=
ENST00000646993.1:c.*2832C>A	ENSP00000493720.1:n.*2832C>A
ENST00000647013.1:c.4296C>A	ENSP00000496741.1:n.4296C>A
ENST00000647015.1:c.4041C>A	ENSP00000495389.1:p.Leu1347=
ENST00000647086.1:c.*3876C>A	ENSP00000493677.1:n.*3876C>A
ENST00000647158.1:c.*2577C>A	ENSP00000495744.1:n.*2577C>A
ENST00000302539.8:c.4293C>A	ENSP00000303960.4:p.Leu1431=
ENST00000389817.7:c.4290C>A	ENSP00000374467.3:p.Leu1430=
ENST00000525022.1:n.289C>A
ENST00000526037.5:n.154C>A
ENST00000526168.5:c.78C>A
ENST00000531642.5:c.126C>A
NM_000352.4:c.4290C>A	NP_000343.2:p.Leu1430=
NM_001287174.1:c.4293C>A	NP_001274103.1:p.Leu1431=
XM_011520331.1:c.4290C>A	XP_011518633.1:p.Leu1430=
XM_011520332.1:c.4293C>A	XP_011518634.1:p.Leu1431=
XM_011520333.1:c.2790C>A	XP_011518635.1:p.Leu930=
XR_930890.1:n.4356C>A
NM_001351295.1:c.4356C>A	NP_001338224.1:p.Leu1452=
NM_001351296.1:c.4290C>A	NP_001338225.1:p.Leu1430=
NM_001351297.1:c.4287C>A	NP_001338226.1:p.Leu1429=
NR_147094.1:n.4585C>A
XM_017018197.2:c.4359C>A	XP_016873686.1:p.Leu1453=
XM_017018199.1:c.4356C>A	XP_016873688.1:p.Leu1452=
XM_017018201.2:c.4359C>A	XP_016873690.1:p.Leu1453=
XM_017018202.1:c.2856C>A	XP_016873691.1:p.Leu952=
XM_017018204.1:c.2247C>A	XP_016873693.1:p.Leu749=
XM_024448668.1:c.2658C>A	XP_024304436.1:p.Leu886=
XR_001747945.2:n.4431C>A
XR_001747946.2:n.4362C>A
XR_002957189.1:n.6145C>A
NM_000352.6:c.4290C>A MANE Select	NP_000343.2:p.Leu1430=
NM_001287174.2:c.4293C>A	NP_001274103.1:p.Leu1431=
NM_001351295.2:c.4356C>A	NP_001338224.1:p.Leu1452=
NM_001351296.2:c.4290C>A	NP_001338225.1:p.Leu1430=
NM_001351297.2:c.4287C>A	NP_001338226.1:p.Leu1429=
NR_147094.2:n.4585C>A
NM_001287174.3:c.4293C>A	NP_001274103.1:p.Leu1431=