Canonical Allele Identifier: CA379782157

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415292T>A (hg19) ; chr11:g.17393745T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393745T>A , CM000673.2:g.17393745T>A	GRCh38
NC_000011.9:g.17415292T>A , CM000673.1:g.17415292T>A	GRCh37
NC_000011.8:g.17371868T>A	NCBI36
NG_008867.1:g.88158A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4161A>T
ENST00000526037.6:n.495A>T
ENST00000528374.2:c.1151A>T
ENST00000529967.6:n.2899A>T
ENST00000532220.2:n.3793A>T
ENST00000642611.2:n.5893A>T
ENST00000644057.2:n.1136A>T
ENST00000645004.2:n.2059A>T
ENST00000682051.1:n.4722A>T
ENST00000682110.1:n.4775A>T
ENST00000682140.1:c.*346A>T	ENSP00000507829.1:n.*346A>T
ENST00000682185.1:n.5865A>T
ENST00000682204.1:c.*2698A>T	ENSP00000507094.1:n.*2698A>T
ENST00000682215.1:n.5142A>T
ENST00000682288.1:c.*2991A>T	ENSP00000507506.1:n.*2991A>T
ENST00000682442.1:n.4995A>T
ENST00000682528.1:n.4852A>T
ENST00000682673.1:n.4719A>T
ENST00000682805.1:n.5180A>T
ENST00000682965.1:c.*982A>T	ENSP00000508229.1:n.*982A>T
ENST00000683093.1:n.5755A>T
ENST00000683136.1:c.4443A>T	ENSP00000507768.1:p.Gln1481His
ENST00000683153.1:n.4817A>T
ENST00000683365.1:n.4877A>T
ENST00000683377.1:n.4671A>T
ENST00000683456.1:c.*1697A>T	ENSP00000508318.1:n.*1697A>T
ENST00000683522.1:n.4857A>T
ENST00000683562.1:c.*2625A>T	ENSP00000508265.1:n.*2625A>T
ENST00000683693.1:n.6236A>T
ENST00000683725.1:c.*25A>T	ENSP00000507496.1:n.*25A>T
ENST00000684010.1:n.4770A>T
ENST00000684014.1:n.747A>T
ENST00000684157.1:n.5760A>T
ENST00000684253.1:n.4678A>T
ENST00000684288.1:c.*2732A>T	ENSP00000507143.1:n.*2732A>T
ENST00000684313.1:n.4207A>T
ENST00000684332.1:n.4848A>T
ENST00000684371.1:n.4881A>T
ENST00000684404.1:n.5803A>T
ENST00000684442.1:n.4999A>T
ENST00000684555.1:c.*2772A>T	ENSP00000507705.1:n.*2772A>T
ENST00000684571.1:c.4401A>T	ENSP00000506935.1:p.Gln1467His
ENST00000684593.1:c.*4265A>T	ENSP00000507005.1:n.*4265A>T
ENST00000684711.1:c.*2956A>T	ENSP00000506841.1:n.*2956A>T
ENST00000302539.9:c.4563A>T	ENSP00000303960.4:p.Gln1521His
ENST00000389817.8:c.4560A>T MANE Select	ENSP00000374467.4:p.Gln1520His
ENST00000642271.1:c.4557A>T	ENSP00000493749.1:p.Gln1519His
ENST00000642579.1:c.2614A>T
ENST00000642611.1:n.5778A>T
ENST00000642902.1:c.4342A>T
ENST00000643260.1:c.4560A>T	ENSP00000494450.1:p.Gln1520His
ENST00000643562.1:c.*2682A>T	ENSP00000496124.1:n.*2682A>T
ENST00000643925.1:c.3185+521A>T
ENST00000644057.1:n.719A>T
ENST00000644484.1:c.*3946A>T	ENSP00000493558.1:n.*3946A>T
ENST00000644675.1:c.*2732A>T	ENSP00000494567.1:n.*2732A>T
ENST00000644757.1:c.*3203-765A>T	ENSP00000495085.1:n.*3203-765A>T
ENST00000644772.1:c.4626A>T	ENSP00000494321.1:p.Gln1542His
ENST00000645004.1:n.2253A>T
ENST00000645076.1:c.3655A>T
ENST00000645417.1:c.1748A>T
ENST00000645744.1:c.*4245A>T	ENSP00000494564.1:n.*4245A>T
ENST00000645760.1:c.4981A>T
ENST00000645884.1:c.*1843A>T	ENSP00000495516.1:n.*1843A>T
ENST00000646003.1:c.*2582A>T	ENSP00000495259.1:n.*2582A>T
ENST00000646207.1:c.*3397A>T	ENSP00000495025.1:n.*3397A>T
ENST00000646276.1:c.*3964A>T	ENSP00000496070.1:n.*3964A>T
ENST00000646592.1:c.3866A>T
ENST00000646902.1:c.4527A>T	ENSP00000494101.1:p.Gln1509His
ENST00000646993.1:c.*2998A>T	ENSP00000493720.1:n.*2998A>T
ENST00000647015.1:c.4311A>T	ENSP00000495389.1:p.Gln1437His
ENST00000647086.1:c.*4146A>T	ENSP00000493677.1:n.*4146A>T
ENST00000647158.1:c.*2847A>T	ENSP00000495744.1:n.*2847A>T
ENST00000302539.8:c.4563A>T	ENSP00000303960.4:p.Gln1521His
ENST00000389817.7:c.4560A>T	ENSP00000374467.3:p.Gln1520His
ENST00000525022.1:n.455A>T
ENST00000526037.5:n.320A>T
ENST00000526168.5:c.348A>T
ENST00000531642.5:c.591A>T
NM_000352.4:c.4560A>T	NP_000343.2:p.Gln1520His
NM_001287174.1:c.4563A>T	NP_001274103.1:p.Gln1521His
XM_011520331.1:c.4560A>T	XP_011518633.1:p.Gln1520His
XM_011520333.1:c.3060A>T	XP_011518635.1:p.Gln1020His
XR_930890.1:n.4522A>T
NM_001351295.1:c.4626A>T	NP_001338224.1:p.Gln1542His
NM_001351296.1:c.4560A>T	NP_001338225.1:p.Gln1520His
NM_001351297.1:c.4557A>T	NP_001338226.1:p.Gln1519His
NR_147094.1:n.4855A>T
XM_017018197.2:c.4629A>T	XP_016873686.1:p.Gln1543His
XM_017018199.1:c.4626A>T	XP_016873688.1:p.Gln1542His
XM_017018202.1:c.3126A>T	XP_016873691.1:p.Gln1042His
XM_017018204.1:c.2517A>T	XP_016873693.1:p.Gln839His
XM_024448668.1:c.2928A>T	XP_024304436.1:p.Gln976His
XR_001747945.2:n.4597A>T
XR_001747946.2:n.4528A>T
XR_002957189.1:n.6311A>T
NM_000352.6:c.4560A>T MANE Select	NP_000343.2:p.Gln1520His
NM_001287174.2:c.4563A>T	NP_001274103.1:p.Gln1521His
NM_001351295.2:c.4626A>T	NP_001338224.1:p.Gln1542His
NM_001351296.2:c.4560A>T	NP_001338225.1:p.Gln1520His
NM_001351297.2:c.4557A>T	NP_001338226.1:p.Gln1519His
NR_147094.2:n.4855A>T
NM_001287174.3:c.4563A>T	NP_001274103.1:p.Gln1521His