Canonical Allele Identifier: CA473298242

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417215G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395668G>A , CM000673.2:g.17395668G>A	GRCh38
NC_000011.9:g.17417215G>A , CM000673.1:g.17417215G>A	GRCh37
NC_000011.8:g.17373791G>A	NCBI36
NG_008867.1:g.86235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3850C>T
ENST00000528374.2:c.840C>T
ENST00000529967.6:n.2588C>T
ENST00000532220.2:n.3482C>T
ENST00000642611.2:n.5582C>T
ENST00000644057.2:n.825C>T
ENST00000645004.2:n.1748C>T
ENST00000682051.1:n.4411C>T
ENST00000682110.1:n.4464C>T
ENST00000682140.1:c.*35C>T	ENSP00000507829.1:n.*35C>T
ENST00000682185.1:n.5554C>T
ENST00000682204.1:c.*2387C>T	ENSP00000507094.1:n.*2387C>T
ENST00000682215.1:n.4831C>T
ENST00000682288.1:c.*2680C>T	ENSP00000507506.1:n.*2680C>T
ENST00000682442.1:n.4684C>T
ENST00000682528.1:n.4541C>T
ENST00000682673.1:n.4408C>T
ENST00000682805.1:n.4869C>T
ENST00000682965.1:c.*671C>T	ENSP00000508229.1:n.*671C>T
ENST00000683093.1:n.5548C>T
ENST00000683136.1:c.4132C>T	ENSP00000507768.1:p.Leu1378=
ENST00000683153.1:n.4506C>T
ENST00000683365.1:n.4566C>T
ENST00000683377.1:n.4464C>T
ENST00000683456.1:c.*1386C>T	ENSP00000508318.1:n.*1386C>T
ENST00000683522.1:n.4464C>T
ENST00000683562.1:c.*2418C>T	ENSP00000508265.1:n.*2418C>T
ENST00000683693.1:n.6029C>T
ENST00000683725.1:c.4249C>T	ENSP00000507496.1:p.Leu1417=
ENST00000684010.1:n.4459C>T
ENST00000684157.1:n.5449C>T
ENST00000684253.1:n.4367C>T
ENST00000684288.1:c.*2421C>T	ENSP00000507143.1:n.*2421C>T
ENST00000684313.1:n.3896C>T
ENST00000684332.1:n.4537C>T
ENST00000684371.1:n.4570C>T
ENST00000684404.1:n.5492C>T
ENST00000684442.1:n.4688C>T
ENST00000684555.1:c.*2461C>T	ENSP00000507705.1:n.*2461C>T
ENST00000684571.1:c.4090C>T	ENSP00000506935.1:p.Leu1364=
ENST00000684593.1:c.*3954C>T	ENSP00000507005.1:n.*3954C>T
ENST00000684711.1:c.*2645C>T	ENSP00000506841.1:n.*2645C>T
ENST00000302539.9:c.4252C>T	ENSP00000303960.4:p.Leu1418=
ENST00000389817.8:c.4249C>T MANE Select	ENSP00000374467.4:p.Leu1417=
ENST00000642271.1:c.4246C>T	ENSP00000493749.1:p.Leu1416=
ENST00000642579.1:c.2303C>T
ENST00000642611.1:n.5467C>T
ENST00000642902.1:c.4031C>T
ENST00000643260.1:c.4249C>T	ENSP00000494450.1:p.Leu1417=
ENST00000643562.1:c.*2371C>T	ENSP00000496124.1:n.*2371C>T
ENST00000643925.1:c.2889C>T
ENST00000644057.1:n.326C>T
ENST00000644484.1:c.*3635C>T	ENSP00000493558.1:n.*3635C>T
ENST00000644675.1:c.*2421C>T	ENSP00000494567.1:n.*2421C>T
ENST00000644757.1:c.*3202+596C>T	ENSP00000495085.1:n.*3202+596C>T
ENST00000644772.1:c.4315C>T	ENSP00000494321.1:p.Leu1439=
ENST00000645004.1:n.1942C>T
ENST00000645076.1:c.3448C>T
ENST00000645417.1:c.1437C>T
ENST00000645744.1:c.*3964-30C>T	ENSP00000494564.1:n.*3964-30C>T
ENST00000645760.1:c.4670C>T
ENST00000645884.1:c.*1532C>T	ENSP00000495516.1:n.*1532C>T
ENST00000646003.1:c.*2301-30C>T	ENSP00000495259.1:n.*2301-30C>T
ENST00000646207.1:c.*3086C>T	ENSP00000495025.1:n.*3086C>T
ENST00000646276.1:c.*3653C>T	ENSP00000496070.1:n.*3653C>T
ENST00000646592.1:c.3555C>T
ENST00000646902.1:c.4216C>T	ENSP00000494101.1:p.Leu1406=
ENST00000646993.1:c.*2791C>T	ENSP00000493720.1:n.*2791C>T
ENST00000647013.1:c.4255C>T	ENSP00000496741.1:n.4255C>T
ENST00000647015.1:c.4000C>T	ENSP00000495389.1:p.Leu1334=
ENST00000647086.1:c.*3835C>T	ENSP00000493677.1:n.*3835C>T
ENST00000647158.1:c.*2536C>T	ENSP00000495744.1:n.*2536C>T
ENST00000302539.8:c.4252C>T	ENSP00000303960.4:p.Leu1418=
ENST00000389817.7:c.4249C>T	ENSP00000374467.3:p.Leu1417=
ENST00000525022.1:n.248C>T
ENST00000526037.5:n.113C>T
ENST00000526168.5:c.67-30C>T
ENST00000531642.5:c.85C>T
NM_000352.4:c.4249C>T	NP_000343.2:p.Leu1417=
NM_001287174.1:c.4252C>T	NP_001274103.1:p.Leu1418=
XM_011520331.1:c.4249C>T	XP_011518633.1:p.Leu1417=
XM_011520332.1:c.4252C>T	XP_011518634.1:p.Leu1418=
XM_011520333.1:c.2749C>T	XP_011518635.1:p.Leu917=
XR_930890.1:n.4315C>T
NM_001351295.1:c.4315C>T	NP_001338224.1:p.Leu1439=
NM_001351296.1:c.4249C>T	NP_001338225.1:p.Leu1417=
NM_001351297.1:c.4246C>T	NP_001338226.1:p.Leu1416=
NR_147094.1:n.4544C>T
XM_017018197.2:c.4318C>T	XP_016873686.1:p.Leu1440=
XM_017018199.1:c.4315C>T	XP_016873688.1:p.Leu1439=
XM_017018201.2:c.4318C>T	XP_016873690.1:p.Leu1440=
XM_017018202.1:c.2815C>T	XP_016873691.1:p.Leu939=
XM_017018204.1:c.2206C>T	XP_016873693.1:p.Leu736=
XM_024448668.1:c.2617C>T	XP_024304436.1:p.Leu873=
XR_001747945.2:n.4390C>T
XR_001747946.2:n.4321C>T
XR_002957189.1:n.6104C>T
NM_000352.6:c.4249C>T MANE Select	NP_000343.2:p.Leu1417=
NM_001287174.2:c.4252C>T	NP_001274103.1:p.Leu1418=
NM_001351295.2:c.4315C>T	NP_001338224.1:p.Leu1439=
NM_001351296.2:c.4249C>T	NP_001338225.1:p.Leu1417=
NM_001351297.2:c.4246C>T	NP_001338226.1:p.Leu1416=
NR_147094.2:n.4544C>T
NM_001287174.3:c.4252C>T	NP_001274103.1:p.Leu1418=