Canonical Allele Identifier: CA2573146250

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1563750
• ClinVar RCV Id: RCV002216460
• dbSNP Id: rs2133407554

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397050G>A , CM000673.2:g.17397050G>A	GRCh38
NC_000011.9:g.17418597G>A , CM000673.1:g.17418597G>A	GRCh37
NC_000011.8:g.17375173G>A	NCBI36
NG_008867.1:g.84853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3586C>T
ENST00000528374.2:c.576C>T
ENST00000529967.6:n.2328-4C>T
ENST00000532220.2:n.2233C>T
ENST00000642611.2:n.4200C>T
ENST00000644057.2:n.432-4C>T
ENST00000645004.2:n.1488-4C>T
ENST00000682051.1:n.4147C>T
ENST00000682110.1:n.4200C>T
ENST00000682140.1:c.3985+143C>T	ENSP00000507829.1:n.3985+143C>T
ENST00000682185.1:n.5294-4C>T
ENST00000682204.1:c.*2127-4C>T	ENSP00000507094.1:n.*2127-4C>T
ENST00000682215.1:n.4567C>T
ENST00000682288.1:c.*2420-4C>T	ENSP00000507506.1:n.*2420-4C>T
ENST00000682442.1:n.4420C>T
ENST00000682528.1:n.4277C>T
ENST00000682673.1:n.4144C>T
ENST00000682805.1:n.4567C>T
ENST00000682965.1:c.*411-4C>T	ENSP00000508229.1:n.*411-4C>T
ENST00000683093.1:n.4299C>T
ENST00000683136.1:c.3872-4C>T	ENSP00000507768.1:n.3872-4C>T
ENST00000683153.1:n.4242C>T
ENST00000683365.1:n.4302C>T
ENST00000683377.1:n.4200C>T
ENST00000683456.1:c.*1126-4C>T	ENSP00000508318.1:n.*1126-4C>T
ENST00000683522.1:n.4200C>T
ENST00000683562.1:c.*2158-4C>T	ENSP00000508265.1:n.*2158-4C>T
ENST00000683693.1:n.4647C>T
ENST00000683725.1:c.3989-4C>T	ENSP00000507496.1:n.3989-4C>T
ENST00000684010.1:n.4195C>T
ENST00000684157.1:n.4200C>T
ENST00000684253.1:n.4103C>T
ENST00000684288.1:c.*2161-4C>T	ENSP00000507143.1:n.*2161-4C>T
ENST00000684313.1:n.3632C>T
ENST00000684332.1:n.4273C>T
ENST00000684371.1:n.4306C>T
ENST00000684404.1:n.4243C>T
ENST00000684442.1:n.4428-4C>T
ENST00000684555.1:c.*2201-4C>T	ENSP00000507705.1:n.*2201-4C>T
ENST00000684571.1:c.3830-4C>T	ENSP00000506935.1:n.3830-4C>T
ENST00000684593.1:c.*3694-4C>T	ENSP00000507005.1:n.*3694-4C>T
ENST00000684711.1:c.*2385-4C>T	ENSP00000506841.1:n.*2385-4C>T
ENST00000302539.9:c.3992-4C>T	ENSP00000303960.4:n.3992-4C>T
ENST00000389817.8:c.3989-4C>T MANE Select	ENSP00000374467.4:n.3989-4C>T
ENST00000642271.1:c.3986-4C>T	ENSP00000493749.1:n.3986-4C>T
ENST00000642579.1:c.2073-34C>T
ENST00000642611.1:n.4085C>T
ENST00000642902.1:c.3771-4C>T
ENST00000643260.1:c.3989-4C>T	ENSP00000494450.1:n.3989-4C>T
ENST00000643562.1:c.*2107C>T	ENSP00000496124.1:n.*2107C>T
ENST00000643925.1:c.2625C>T
ENST00000644057.1:n.62C>T
ENST00000644484.1:c.*2386C>T	ENSP00000493558.1:n.*2386C>T
ENST00000644675.1:c.*2161-4C>T	ENSP00000494567.1:n.*2161-4C>T
ENST00000644757.1:c.*2416C>T	ENSP00000495085.1:n.*2416C>T
ENST00000644772.1:c.4055-4C>T	ENSP00000494321.1:n.4055-4C>T
ENST00000645004.1:n.1640C>T
ENST00000645076.1:c.3188-4C>T
ENST00000645417.1:c.1177-4C>T
ENST00000645744.1:c.*2765C>T	ENSP00000494564.1:n.*2765C>T
ENST00000645760.1:c.4406C>T
ENST00000645884.1:c.*1268C>T	ENSP00000495516.1:n.*1268C>T
ENST00000646003.1:c.*2087C>T	ENSP00000495259.1:n.*2087C>T
ENST00000646207.1:c.*2826-4C>T	ENSP00000495025.1:n.*2826-4C>T
ENST00000646276.1:c.*2404C>T	ENSP00000496070.1:n.*2404C>T
ENST00000646592.1:c.3295-4C>T
ENST00000646902.1:c.3986-34C>T	ENSP00000494101.1:n.3986-34C>T
ENST00000646993.1:c.*2527C>T	ENSP00000493720.1:n.*2527C>T
ENST00000647013.1:c.3995-4C>T	ENSP00000496741.1:n.3995-4C>T
ENST00000647015.1:c.3740-4C>T	ENSP00000495389.1:n.3740-4C>T
ENST00000647086.1:c.*3605-34C>T	ENSP00000493677.1:n.*3605-34C>T
ENST00000647158.1:c.*2272C>T	ENSP00000495744.1:n.*2272C>T
ENST00000302539.8:c.3992-4C>T	ENSP00000303960.4:n.3992-4C>T
ENST00000389817.7:c.3989-4C>T	ENSP00000374467.3:n.3989-4C>T
ENST00000527905.5:c.*1007C>T	ENSP00000431653.1:n.*1007C>T
ENST00000528374.1:c.467C>T
ENST00000531137.1:n.550C>T
ENST00000531891.1:c.357-34C>T
ENST00000532220.1:n.459C>T
NM_000352.4:c.3989-4C>T	NP_000343.2:n.3989-4C>T
NM_001287174.1:c.3992-4C>T	NP_001274103.1:n.3992-4C>T
XM_011520331.1:c.3989-4C>T	XP_011518633.1:n.3989-4C>T
XM_011520332.1:c.3992-4C>T	XP_011518634.1:n.3992-4C>T
XM_011520333.1:c.2489-4C>T	XP_011518635.1:n.2489-4C>T
XR_930890.1:n.4055-4C>T
NM_001351295.1:c.4055-4C>T	NP_001338224.1:n.4055-4C>T
NM_001351296.1:c.3989-4C>T	NP_001338225.1:n.3989-4C>T
NM_001351297.1:c.3986-4C>T	NP_001338226.1:n.3986-4C>T
NR_147094.1:n.4280C>T
XM_017018197.2:c.4058-4C>T	XP_016873686.1:n.4058-4C>T
XM_017018199.1:c.4055-4C>T	XP_016873688.1:n.4055-4C>T
XM_017018201.2:c.4058-4C>T	XP_016873690.1:n.4058-4C>T
XM_017018202.1:c.2555-4C>T	XP_016873691.1:n.2555-4C>T
XM_017018204.1:c.1946-4C>T	XP_016873693.1:n.1946-4C>T
XM_024448668.1:c.2357-4C>T	XP_024304436.1:n.2357-4C>T
XR_001747945.2:n.4130-4C>T
XR_001747946.2:n.4061-4C>T
XR_002957189.1:n.4722C>T
NM_000352.6:c.3989-4C>T MANE Select	NP_000343.2:n.3989-4C>T
NM_001287174.2:c.3992-4C>T	NP_001274103.1:n.3992-4C>T
NM_001351295.2:c.4055-4C>T	NP_001338224.1:n.4055-4C>T
NM_001351296.2:c.3989-4C>T	NP_001338225.1:n.3989-4C>T
NM_001351297.2:c.3986-4C>T	NP_001338226.1:n.3986-4C>T
NR_147094.2:n.4280C>T
NM_001287174.3:c.3992-4C>T	NP_001274103.1:n.3992-4C>T