Canonical Allele Identifier: CA2612634570

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393245-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393245A>C , CM000673.2:g.17393245A>C	GRCh38
NC_000011.9:g.17414792A>C , CM000673.1:g.17414792A>C	GRCh37
NC_000011.8:g.17371368A>C	NCBI36
NG_008867.1:g.88658T>G
NG_012446.1:g.415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4210-117T>G
ENST00000526037.6:n.544-117T>G
ENST00000528374.2:c.1200-117T>G
ENST00000529967.6:n.2948-117T>G
ENST00000532220.2:n.3842-117T>G
ENST00000642611.2:n.5942-117T>G
ENST00000644057.2:n.1185-117T>G
ENST00000645004.2:n.2108-117T>G
ENST00000682051.1:n.4771-117T>G
ENST00000682110.1:n.4824-117T>G
ENST00000682140.1:c.*395-117T>G	ENSP00000507829.1:n.*395-117T>G
ENST00000682185.1:n.5914-117T>G
ENST00000682204.1:c.*2747-117T>G	ENSP00000507094.1:n.*2747-117T>G
ENST00000682215.1:n.5191-117T>G
ENST00000682288.1:c.*3040-117T>G	ENSP00000507506.1:n.*3040-117T>G
ENST00000682442.1:n.5044-117T>G
ENST00000682528.1:n.4901-117T>G
ENST00000682673.1:n.4768-117T>G
ENST00000682805.1:n.5229-117T>G
ENST00000682965.1:c.*1031-117T>G	ENSP00000508229.1:n.*1031-117T>G
ENST00000683093.1:n.5804-117T>G
ENST00000683136.1:c.4492-117T>G	ENSP00000507768.1:n.4492-117T>G
ENST00000683153.1:n.4866-117T>G
ENST00000683365.1:n.4926-117T>G
ENST00000683377.1:n.4720-117T>G
ENST00000683456.1:c.*1746-117T>G	ENSP00000508318.1:n.*1746-117T>G
ENST00000683522.1:n.4906-117T>G
ENST00000683562.1:c.*2674-117T>G	ENSP00000508265.1:n.*2674-117T>G
ENST00000683693.1:n.6285-117T>G
ENST00000683725.1:c.*74-117T>G	ENSP00000507496.1:n.*74-117T>G
ENST00000684010.1:n.4819-117T>G
ENST00000684014.1:n.796-117T>G
ENST00000684157.1:n.5809-117T>G
ENST00000684253.1:n.4727-117T>G
ENST00000684288.1:c.*2781-117T>G	ENSP00000507143.1:n.*2781-117T>G
ENST00000684313.1:n.4256-117T>G
ENST00000684332.1:n.4897-117T>G
ENST00000684371.1:n.4930-117T>G
ENST00000684404.1:n.5852-117T>G
ENST00000684442.1:n.5048-117T>G
ENST00000684555.1:c.*2821-117T>G	ENSP00000507705.1:n.*2821-117T>G
ENST00000684571.1:c.4450-117T>G	ENSP00000506935.1:n.4450-117T>G
ENST00000684593.1:c.*4314-117T>G	ENSP00000507005.1:n.*4314-117T>G
ENST00000684711.1:c.*3005-117T>G	ENSP00000506841.1:n.*3005-117T>G
ENST00000302539.9:c.4612-117T>G	ENSP00000303960.4:n.4612-117T>G
ENST00000389817.8:c.4609-117T>G MANE Select	ENSP00000374467.4:n.4609-117T>G
ENST00000642271.1:c.4606-117T>G	ENSP00000493749.1:n.4606-117T>G
ENST00000642579.1:c.2663-117T>G
ENST00000642611.1:n.5827-117T>G
ENST00000642902.1:c.4391-117T>G
ENST00000643260.1:c.4609-117T>G	ENSP00000494450.1:n.4609-117T>G
ENST00000643562.1:c.*2731-117T>G	ENSP00000496124.1:n.*2731-117T>G
ENST00000643925.1:c.3186-117T>G
ENST00000644057.1:n.768-117T>G
ENST00000644484.1:c.*3995-117T>G	ENSP00000493558.1:n.*3995-117T>G
ENST00000644675.1:c.*2781-117T>G	ENSP00000494567.1:n.*2781-117T>G
ENST00000644757.1:c.*3203-265T>G	ENSP00000495085.1:n.*3203-265T>G
ENST00000644772.1:c.4675-117T>G	ENSP00000494321.1:n.4675-117T>G
ENST00000645004.1:n.2302-117T>G
ENST00000645076.1:c.3704-117T>G
ENST00000645417.1:c.1797-117T>G
ENST00000645744.1:c.*4294-117T>G	ENSP00000494564.1:n.*4294-117T>G
ENST00000645760.1:c.5030-117T>G
ENST00000645884.1:c.*1892-117T>G	ENSP00000495516.1:n.*1892-117T>G
ENST00000646003.1:c.*2631-117T>G	ENSP00000495259.1:n.*2631-117T>G
ENST00000646207.1:c.*3446-117T>G	ENSP00000495025.1:n.*3446-117T>G
ENST00000646276.1:c.*4013-117T>G	ENSP00000496070.1:n.*4013-117T>G
ENST00000646592.1:c.3915-117T>G
ENST00000646902.1:c.4576-117T>G	ENSP00000494101.1:n.4576-117T>G
ENST00000646993.1:c.*3047-117T>G	ENSP00000493720.1:n.*3047-117T>G
ENST00000647015.1:c.4360-117T>G	ENSP00000495389.1:n.4360-117T>G
ENST00000647086.1:c.*4195-117T>G	ENSP00000493677.1:n.*4195-117T>G
ENST00000647158.1:c.*2896-117T>G	ENSP00000495744.1:n.*2896-117T>G
ENST00000302539.8:c.4612-117T>G	ENSP00000303960.4:n.4612-117T>G
ENST00000389817.7:c.4609-117T>G	ENSP00000374467.3:n.4609-117T>G
ENST00000525022.1:n.504-33T>G
ENST00000526037.5:n.369-117T>G
ENST00000526168.5:c.397-117T>G
ENST00000531642.5:c.640-117T>G
NM_000352.4:c.4609-117T>G	NP_000343.2:n.4609-117T>G
NM_001287174.1:c.4612-117T>G	NP_001274103.1:n.4612-117T>G
XM_011520331.1:c.4609-117T>G	XP_011518633.1:n.4609-117T>G
XM_011520333.1:c.3109-117T>G	XP_011518635.1:n.3109-117T>G
XR_930890.1:n.4571-117T>G
NM_001351295.1:c.4675-117T>G	NP_001338224.1:n.4675-117T>G
NM_001351296.1:c.4609-117T>G	NP_001338225.1:n.4609-117T>G
NM_001351297.1:c.4606-117T>G	NP_001338226.1:n.4606-117T>G
NR_147094.1:n.4904-117T>G
XM_017018197.2:c.4678-117T>G	XP_016873686.1:n.4678-117T>G
XM_017018199.1:c.4675-117T>G	XP_016873688.1:n.4675-117T>G
XM_017018202.1:c.3175-117T>G	XP_016873691.1:n.3175-117T>G
XM_017018204.1:c.2566-117T>G	XP_016873693.1:n.2566-117T>G
XM_024448668.1:c.2977-117T>G	XP_024304436.1:n.2977-117T>G
XR_001747945.2:n.4646-117T>G
XR_001747946.2:n.4577-117T>G
XR_002957189.1:n.6360-117T>G
NM_000352.6:c.4609-117T>G MANE Select	NP_000343.2:n.4609-117T>G
NM_001287174.2:c.4612-117T>G	NP_001274103.1:n.4612-117T>G
NM_001351295.2:c.4675-117T>G	NP_001338224.1:n.4675-117T>G
NM_001351296.2:c.4609-117T>G	NP_001338225.1:n.4609-117T>G
NM_001351297.2:c.4606-117T>G	NP_001338226.1:n.4606-117T>G
NR_147094.2:n.4904-117T>G
NM_001287174.3:c.4612-117T>G	NP_001274103.1:n.4612-117T>G