Canonical Allele Identifier: CA1955122112

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953727962
• gnomAD v4: 11-17393350-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393350C>T , CM000673.2:g.17393350C>T	GRCh38
NC_000011.9:g.17414897C>T , CM000673.1:g.17414897C>T	GRCh37
NC_000011.8:g.17371473C>T	NCBI36
NG_008867.1:g.88553G>A
NG_012446.1:g.310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4210-222G>A
ENST00000526037.6:n.544-222G>A
ENST00000528374.2:c.1200-222G>A
ENST00000529967.6:n.2948-222G>A
ENST00000532220.2:n.3842-222G>A
ENST00000642611.2:n.5942-222G>A
ENST00000644057.2:n.1185-222G>A
ENST00000645004.2:n.2108-222G>A
ENST00000682051.1:n.4771-222G>A
ENST00000682110.1:n.4824-222G>A
ENST00000682140.1:c.*395-222G>A	ENSP00000507829.1:n.*395-222G>A
ENST00000682185.1:n.5914-222G>A
ENST00000682204.1:c.*2747-222G>A	ENSP00000507094.1:n.*2747-222G>A
ENST00000682215.1:n.5191-222G>A
ENST00000682288.1:c.*3040-222G>A	ENSP00000507506.1:n.*3040-222G>A
ENST00000682442.1:n.5044-222G>A
ENST00000682528.1:n.4901-222G>A
ENST00000682673.1:n.4768-222G>A
ENST00000682805.1:n.5229-222G>A
ENST00000682965.1:c.*1031-222G>A	ENSP00000508229.1:n.*1031-222G>A
ENST00000683093.1:n.5804-222G>A
ENST00000683136.1:c.4492-222G>A	ENSP00000507768.1:n.4492-222G>A
ENST00000683153.1:n.4866-222G>A
ENST00000683365.1:n.4926-222G>A
ENST00000683377.1:n.4720-222G>A
ENST00000683456.1:c.*1746-222G>A	ENSP00000508318.1:n.*1746-222G>A
ENST00000683522.1:n.4906-222G>A
ENST00000683562.1:c.*2674-222G>A	ENSP00000508265.1:n.*2674-222G>A
ENST00000683693.1:n.6285-222G>A
ENST00000683725.1:c.*74-222G>A	ENSP00000507496.1:n.*74-222G>A
ENST00000684010.1:n.4819-222G>A
ENST00000684014.1:n.796-222G>A
ENST00000684157.1:n.5809-222G>A
ENST00000684253.1:n.4727-222G>A
ENST00000684288.1:c.*2781-222G>A	ENSP00000507143.1:n.*2781-222G>A
ENST00000684313.1:n.4256-222G>A
ENST00000684332.1:n.4897-222G>A
ENST00000684371.1:n.4930-222G>A
ENST00000684404.1:n.5852-222G>A
ENST00000684442.1:n.5048-222G>A
ENST00000684555.1:c.*2821-222G>A	ENSP00000507705.1:n.*2821-222G>A
ENST00000684571.1:c.4450-222G>A	ENSP00000506935.1:n.4450-222G>A
ENST00000684593.1:c.*4314-222G>A	ENSP00000507005.1:n.*4314-222G>A
ENST00000684711.1:c.*3005-222G>A	ENSP00000506841.1:n.*3005-222G>A
ENST00000302539.9:c.4612-222G>A	ENSP00000303960.4:n.4612-222G>A
ENST00000389817.8:c.4609-222G>A MANE Select	ENSP00000374467.4:n.4609-222G>A
ENST00000642271.1:c.4606-222G>A	ENSP00000493749.1:n.4606-222G>A
ENST00000642579.1:c.2663-222G>A
ENST00000642611.1:n.5827-222G>A
ENST00000642902.1:c.4391-222G>A
ENST00000643260.1:c.4609-222G>A	ENSP00000494450.1:n.4609-222G>A
ENST00000643562.1:c.*2731-222G>A	ENSP00000496124.1:n.*2731-222G>A
ENST00000643925.1:c.3186-222G>A
ENST00000644057.1:n.768-222G>A
ENST00000644484.1:c.*3995-222G>A	ENSP00000493558.1:n.*3995-222G>A
ENST00000644675.1:c.*2781-222G>A	ENSP00000494567.1:n.*2781-222G>A
ENST00000644757.1:c.*3203-370G>A	ENSP00000495085.1:n.*3203-370G>A
ENST00000644772.1:c.4675-222G>A	ENSP00000494321.1:n.4675-222G>A
ENST00000645004.1:n.2302-222G>A
ENST00000645076.1:c.3704-222G>A
ENST00000645417.1:c.1797-222G>A
ENST00000645744.1:c.*4294-222G>A	ENSP00000494564.1:n.*4294-222G>A
ENST00000645760.1:c.5030-222G>A
ENST00000645884.1:c.*1892-222G>A	ENSP00000495516.1:n.*1892-222G>A
ENST00000646003.1:c.*2631-222G>A	ENSP00000495259.1:n.*2631-222G>A
ENST00000646207.1:c.*3446-222G>A	ENSP00000495025.1:n.*3446-222G>A
ENST00000646276.1:c.*4013-222G>A	ENSP00000496070.1:n.*4013-222G>A
ENST00000646592.1:c.3915-222G>A
ENST00000646902.1:c.4576-222G>A	ENSP00000494101.1:n.4576-222G>A
ENST00000646993.1:c.*3047-222G>A	ENSP00000493720.1:n.*3047-222G>A
ENST00000647015.1:c.4360-222G>A	ENSP00000495389.1:n.4360-222G>A
ENST00000647086.1:c.*4195-222G>A	ENSP00000493677.1:n.*4195-222G>A
ENST00000647158.1:c.*2896-222G>A	ENSP00000495744.1:n.*2896-222G>A
ENST00000302539.8:c.4612-222G>A	ENSP00000303960.4:n.4612-222G>A
ENST00000389817.7:c.4609-222G>A	ENSP00000374467.3:n.4609-222G>A
ENST00000525022.1:n.504-138G>A
ENST00000526037.5:n.369-222G>A
ENST00000526168.5:c.397-222G>A
ENST00000531642.5:c.640-222G>A
NM_000352.4:c.4609-222G>A	NP_000343.2:n.4609-222G>A
NM_001287174.1:c.4612-222G>A	NP_001274103.1:n.4612-222G>A
XM_011520331.1:c.4609-222G>A	XP_011518633.1:n.4609-222G>A
XM_011520333.1:c.3109-222G>A	XP_011518635.1:n.3109-222G>A
XR_930890.1:n.4571-222G>A
NM_001351295.1:c.4675-222G>A	NP_001338224.1:n.4675-222G>A
NM_001351296.1:c.4609-222G>A	NP_001338225.1:n.4609-222G>A
NM_001351297.1:c.4606-222G>A	NP_001338226.1:n.4606-222G>A
NR_147094.1:n.4904-222G>A
XM_017018197.2:c.4678-222G>A	XP_016873686.1:n.4678-222G>A
XM_017018199.1:c.4675-222G>A	XP_016873688.1:n.4675-222G>A
XM_017018202.1:c.3175-222G>A	XP_016873691.1:n.3175-222G>A
XM_017018204.1:c.2566-222G>A	XP_016873693.1:n.2566-222G>A
XM_024448668.1:c.2977-222G>A	XP_024304436.1:n.2977-222G>A
XR_001747945.2:n.4646-222G>A
XR_001747946.2:n.4577-222G>A
XR_002957189.1:n.6360-222G>A
NM_000352.6:c.4609-222G>A MANE Select	NP_000343.2:n.4609-222G>A
NM_001287174.2:c.4612-222G>A	NP_001274103.1:n.4612-222G>A
NM_001351295.2:c.4675-222G>A	NP_001338224.1:n.4675-222G>A
NM_001351296.2:c.4609-222G>A	NP_001338225.1:n.4609-222G>A
NM_001351297.2:c.4606-222G>A	NP_001338226.1:n.4606-222G>A
NR_147094.2:n.4904-222G>A
NM_001287174.3:c.4612-222G>A	NP_001274103.1:n.4612-222G>A