Canonical Allele Identifier: CA379781967

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415266T>G (hg19) ; chr11:g.17393719T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393719T>G , CM000673.2:g.17393719T>G	GRCh38
NC_000011.9:g.17415266T>G , CM000673.1:g.17415266T>G	GRCh37
NC_000011.8:g.17371842T>G	NCBI36
NG_008867.1:g.88184A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4187A>C
ENST00000526037.6:n.521A>C
ENST00000528374.2:c.1177A>C
ENST00000529967.6:n.2925A>C
ENST00000532220.2:n.3819A>C
ENST00000642611.2:n.5919A>C
ENST00000644057.2:n.1162A>C
ENST00000645004.2:n.2085A>C
ENST00000682051.1:n.4748A>C
ENST00000682110.1:n.4801A>C
ENST00000682140.1:c.*372A>C	ENSP00000507829.1:n.*372A>C
ENST00000682185.1:n.5891A>C
ENST00000682204.1:c.*2724A>C	ENSP00000507094.1:n.*2724A>C
ENST00000682215.1:n.5168A>C
ENST00000682288.1:c.*3017A>C	ENSP00000507506.1:n.*3017A>C
ENST00000682442.1:n.5021A>C
ENST00000682528.1:n.4878A>C
ENST00000682673.1:n.4745A>C
ENST00000682805.1:n.5206A>C
ENST00000682965.1:c.*1008A>C	ENSP00000508229.1:n.*1008A>C
ENST00000683093.1:n.5781A>C
ENST00000683136.1:c.4469A>C	ENSP00000507768.1:p.Asp1490Ala
ENST00000683153.1:n.4843A>C
ENST00000683365.1:n.4903A>C
ENST00000683377.1:n.4697A>C
ENST00000683456.1:c.*1723A>C	ENSP00000508318.1:n.*1723A>C
ENST00000683522.1:n.4883A>C
ENST00000683562.1:c.*2651A>C	ENSP00000508265.1:n.*2651A>C
ENST00000683693.1:n.6262A>C
ENST00000683725.1:c.*51A>C	ENSP00000507496.1:n.*51A>C
ENST00000684010.1:n.4796A>C
ENST00000684014.1:n.773A>C
ENST00000684157.1:n.5786A>C
ENST00000684253.1:n.4704A>C
ENST00000684288.1:c.*2758A>C	ENSP00000507143.1:n.*2758A>C
ENST00000684313.1:n.4233A>C
ENST00000684332.1:n.4874A>C
ENST00000684371.1:n.4907A>C
ENST00000684404.1:n.5829A>C
ENST00000684442.1:n.5025A>C
ENST00000684555.1:c.*2798A>C	ENSP00000507705.1:n.*2798A>C
ENST00000684571.1:c.4427A>C	ENSP00000506935.1:p.Asp1476Ala
ENST00000684593.1:c.*4291A>C	ENSP00000507005.1:n.*4291A>C
ENST00000684711.1:c.*2982A>C	ENSP00000506841.1:n.*2982A>C
ENST00000302539.9:c.4589A>C	ENSP00000303960.4:p.Asp1530Ala
ENST00000389817.8:c.4586A>C MANE Select	ENSP00000374467.4:p.Asp1529Ala
ENST00000642271.1:c.4583A>C	ENSP00000493749.1:p.Asp1528Ala
ENST00000642579.1:c.2640A>C
ENST00000642611.1:n.5804A>C
ENST00000642902.1:c.4368A>C
ENST00000643260.1:c.4586A>C	ENSP00000494450.1:p.Asp1529Ala
ENST00000643562.1:c.*2708A>C	ENSP00000496124.1:n.*2708A>C
ENST00000643925.1:c.3185+547A>C
ENST00000644057.1:n.745A>C
ENST00000644484.1:c.*3972A>C	ENSP00000493558.1:n.*3972A>C
ENST00000644675.1:c.*2758A>C	ENSP00000494567.1:n.*2758A>C
ENST00000644757.1:c.*3203-739A>C	ENSP00000495085.1:n.*3203-739A>C
ENST00000644772.1:c.4652A>C	ENSP00000494321.1:p.Asp1551Ala
ENST00000645004.1:n.2279A>C
ENST00000645076.1:c.3681A>C
ENST00000645417.1:c.1774A>C
ENST00000645744.1:c.*4271A>C	ENSP00000494564.1:n.*4271A>C
ENST00000645760.1:c.5007A>C
ENST00000645884.1:c.*1869A>C	ENSP00000495516.1:n.*1869A>C
ENST00000646003.1:c.*2608A>C	ENSP00000495259.1:n.*2608A>C
ENST00000646207.1:c.*3423A>C	ENSP00000495025.1:n.*3423A>C
ENST00000646276.1:c.*3990A>C	ENSP00000496070.1:n.*3990A>C
ENST00000646592.1:c.3892A>C
ENST00000646902.1:c.4553A>C	ENSP00000494101.1:p.Asp1518Ala
ENST00000646993.1:c.*3024A>C	ENSP00000493720.1:n.*3024A>C
ENST00000647015.1:c.4337A>C	ENSP00000495389.1:p.Asp1446Ala
ENST00000647086.1:c.*4172A>C	ENSP00000493677.1:n.*4172A>C
ENST00000647158.1:c.*2873A>C	ENSP00000495744.1:n.*2873A>C
ENST00000302539.8:c.4589A>C	ENSP00000303960.4:p.Asp1530Ala
ENST00000389817.7:c.4586A>C	ENSP00000374467.3:p.Asp1529Ala
ENST00000525022.1:n.481A>C
ENST00000526037.5:n.346A>C
ENST00000526168.5:c.374A>C
ENST00000531642.5:c.617A>C
NM_000352.4:c.4586A>C	NP_000343.2:p.Asp1529Ala
NM_001287174.1:c.4589A>C	NP_001274103.1:p.Asp1530Ala
XM_011520331.1:c.4586A>C	XP_011518633.1:p.Asp1529Ala
XM_011520333.1:c.3086A>C	XP_011518635.1:p.Asp1029Ala
XR_930890.1:n.4548A>C
NM_001351295.1:c.4652A>C	NP_001338224.1:p.Asp1551Ala
NM_001351296.1:c.4586A>C	NP_001338225.1:p.Asp1529Ala
NM_001351297.1:c.4583A>C	NP_001338226.1:p.Asp1528Ala
NR_147094.1:n.4881A>C
XM_017018197.2:c.4655A>C	XP_016873686.1:p.Asp1552Ala
XM_017018199.1:c.4652A>C	XP_016873688.1:p.Asp1551Ala
XM_017018202.1:c.3152A>C	XP_016873691.1:p.Asp1051Ala
XM_017018204.1:c.2543A>C	XP_016873693.1:p.Asp848Ala
XM_024448668.1:c.2954A>C	XP_024304436.1:p.Asp985Ala
XR_001747945.2:n.4623A>C
XR_001747946.2:n.4554A>C
XR_002957189.1:n.6337A>C
NM_000352.6:c.4586A>C MANE Select	NP_000343.2:p.Asp1529Ala
NM_001287174.2:c.4589A>C	NP_001274103.1:p.Asp1530Ala
NM_001351295.2:c.4652A>C	NP_001338224.1:p.Asp1551Ala
NM_001351296.2:c.4586A>C	NP_001338225.1:p.Asp1529Ala
NM_001351297.2:c.4583A>C	NP_001338226.1:p.Asp1528Ala
NR_147094.2:n.4881A>C
NM_001287174.3:c.4589A>C	NP_001274103.1:p.Asp1530Ala