Canonical Allele Identifier: CA2612634588

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393249-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393249C>A , CM000673.2:g.17393249C>A	GRCh38
NC_000011.9:g.17414796C>A , CM000673.1:g.17414796C>A	GRCh37
NC_000011.8:g.17371372C>A	NCBI36
NG_008867.1:g.88654G>T
NG_012446.1:g.411G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4210-121G>T
ENST00000526037.6:n.544-121G>T
ENST00000528374.2:c.1200-121G>T
ENST00000529967.6:n.2948-121G>T
ENST00000532220.2:n.3842-121G>T
ENST00000642611.2:n.5942-121G>T
ENST00000644057.2:n.1185-121G>T
ENST00000645004.2:n.2108-121G>T
ENST00000682051.1:n.4771-121G>T
ENST00000682110.1:n.4824-121G>T
ENST00000682140.1:c.*395-121G>T	ENSP00000507829.1:n.*395-121G>T
ENST00000682185.1:n.5914-121G>T
ENST00000682204.1:c.*2747-121G>T	ENSP00000507094.1:n.*2747-121G>T
ENST00000682215.1:n.5191-121G>T
ENST00000682288.1:c.*3040-121G>T	ENSP00000507506.1:n.*3040-121G>T
ENST00000682442.1:n.5044-121G>T
ENST00000682528.1:n.4901-121G>T
ENST00000682673.1:n.4768-121G>T
ENST00000682805.1:n.5229-121G>T
ENST00000682965.1:c.*1031-121G>T	ENSP00000508229.1:n.*1031-121G>T
ENST00000683093.1:n.5804-121G>T
ENST00000683136.1:c.4492-121G>T	ENSP00000507768.1:n.4492-121G>T
ENST00000683153.1:n.4866-121G>T
ENST00000683365.1:n.4926-121G>T
ENST00000683377.1:n.4720-121G>T
ENST00000683456.1:c.*1746-121G>T	ENSP00000508318.1:n.*1746-121G>T
ENST00000683522.1:n.4906-121G>T
ENST00000683562.1:c.*2674-121G>T	ENSP00000508265.1:n.*2674-121G>T
ENST00000683693.1:n.6285-121G>T
ENST00000683725.1:c.*74-121G>T	ENSP00000507496.1:n.*74-121G>T
ENST00000684010.1:n.4819-121G>T
ENST00000684014.1:n.796-121G>T
ENST00000684157.1:n.5809-121G>T
ENST00000684253.1:n.4727-121G>T
ENST00000684288.1:c.*2781-121G>T	ENSP00000507143.1:n.*2781-121G>T
ENST00000684313.1:n.4256-121G>T
ENST00000684332.1:n.4897-121G>T
ENST00000684371.1:n.4930-121G>T
ENST00000684404.1:n.5852-121G>T
ENST00000684442.1:n.5048-121G>T
ENST00000684555.1:c.*2821-121G>T	ENSP00000507705.1:n.*2821-121G>T
ENST00000684571.1:c.4450-121G>T	ENSP00000506935.1:n.4450-121G>T
ENST00000684593.1:c.*4314-121G>T	ENSP00000507005.1:n.*4314-121G>T
ENST00000684711.1:c.*3005-121G>T	ENSP00000506841.1:n.*3005-121G>T
ENST00000302539.9:c.4612-121G>T	ENSP00000303960.4:n.4612-121G>T
ENST00000389817.8:c.4609-121G>T MANE Select	ENSP00000374467.4:n.4609-121G>T
ENST00000642271.1:c.4606-121G>T	ENSP00000493749.1:n.4606-121G>T
ENST00000642579.1:c.2663-121G>T
ENST00000642611.1:n.5827-121G>T
ENST00000642902.1:c.4391-121G>T
ENST00000643260.1:c.4609-121G>T	ENSP00000494450.1:n.4609-121G>T
ENST00000643562.1:c.*2731-121G>T	ENSP00000496124.1:n.*2731-121G>T
ENST00000643925.1:c.3186-121G>T
ENST00000644057.1:n.768-121G>T
ENST00000644484.1:c.*3995-121G>T	ENSP00000493558.1:n.*3995-121G>T
ENST00000644675.1:c.*2781-121G>T	ENSP00000494567.1:n.*2781-121G>T
ENST00000644757.1:c.*3203-269G>T	ENSP00000495085.1:n.*3203-269G>T
ENST00000644772.1:c.4675-121G>T	ENSP00000494321.1:n.4675-121G>T
ENST00000645004.1:n.2302-121G>T
ENST00000645076.1:c.3704-121G>T
ENST00000645417.1:c.1797-121G>T
ENST00000645744.1:c.*4294-121G>T	ENSP00000494564.1:n.*4294-121G>T
ENST00000645760.1:c.5030-121G>T
ENST00000645884.1:c.*1892-121G>T	ENSP00000495516.1:n.*1892-121G>T
ENST00000646003.1:c.*2631-121G>T	ENSP00000495259.1:n.*2631-121G>T
ENST00000646207.1:c.*3446-121G>T	ENSP00000495025.1:n.*3446-121G>T
ENST00000646276.1:c.*4013-121G>T	ENSP00000496070.1:n.*4013-121G>T
ENST00000646592.1:c.3915-121G>T
ENST00000646902.1:c.4576-121G>T	ENSP00000494101.1:n.4576-121G>T
ENST00000646993.1:c.*3047-121G>T	ENSP00000493720.1:n.*3047-121G>T
ENST00000647015.1:c.4360-121G>T	ENSP00000495389.1:n.4360-121G>T
ENST00000647086.1:c.*4195-121G>T	ENSP00000493677.1:n.*4195-121G>T
ENST00000647158.1:c.*2896-121G>T	ENSP00000495744.1:n.*2896-121G>T
ENST00000302539.8:c.4612-121G>T	ENSP00000303960.4:n.4612-121G>T
ENST00000389817.7:c.4609-121G>T	ENSP00000374467.3:n.4609-121G>T
ENST00000525022.1:n.504-37G>T
ENST00000526037.5:n.369-121G>T
ENST00000526168.5:c.397-121G>T
ENST00000531642.5:c.640-121G>T
NM_000352.4:c.4609-121G>T	NP_000343.2:n.4609-121G>T
NM_001287174.1:c.4612-121G>T	NP_001274103.1:n.4612-121G>T
XM_011520331.1:c.4609-121G>T	XP_011518633.1:n.4609-121G>T
XM_011520333.1:c.3109-121G>T	XP_011518635.1:n.3109-121G>T
XR_930890.1:n.4571-121G>T
NM_001351295.1:c.4675-121G>T	NP_001338224.1:n.4675-121G>T
NM_001351296.1:c.4609-121G>T	NP_001338225.1:n.4609-121G>T
NM_001351297.1:c.4606-121G>T	NP_001338226.1:n.4606-121G>T
NR_147094.1:n.4904-121G>T
XM_017018197.2:c.4678-121G>T	XP_016873686.1:n.4678-121G>T
XM_017018199.1:c.4675-121G>T	XP_016873688.1:n.4675-121G>T
XM_017018202.1:c.3175-121G>T	XP_016873691.1:n.3175-121G>T
XM_017018204.1:c.2566-121G>T	XP_016873693.1:n.2566-121G>T
XM_024448668.1:c.2977-121G>T	XP_024304436.1:n.2977-121G>T
XR_001747945.2:n.4646-121G>T
XR_001747946.2:n.4577-121G>T
XR_002957189.1:n.6360-121G>T
NM_000352.6:c.4609-121G>T MANE Select	NP_000343.2:n.4609-121G>T
NM_001287174.2:c.4612-121G>T	NP_001274103.1:n.4612-121G>T
NM_001351295.2:c.4675-121G>T	NP_001338224.1:n.4675-121G>T
NM_001351296.2:c.4609-121G>T	NP_001338225.1:n.4609-121G>T
NM_001351297.2:c.4606-121G>T	NP_001338226.1:n.4606-121G>T
NR_147094.2:n.4904-121G>T
NM_001287174.3:c.4612-121G>T	NP_001274103.1:n.4612-121G>T