Canonical Allele Identifier: CA597904432

Gene: ABCC8

Linked Data

• dbSNP Id: rs1324242791
• gnomAD v2: 11-17418596-G-A
• gnomAD v4: 11-17397049-G-A
• MyVariant Identifiers: chr11:g.17418596G>A (hg19) ; chr11:g.17397049G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397049G>A , CM000673.2:g.17397049G>A	GRCh38
NC_000011.9:g.17418596G>A , CM000673.1:g.17418596G>A	GRCh37
NC_000011.8:g.17375172G>A	NCBI36
NG_008867.1:g.84854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3587C>T
ENST00000528374.2:c.577C>T
ENST00000529967.6:n.2328-3C>T
ENST00000532220.2:n.2234C>T
ENST00000642611.2:n.4201C>T
ENST00000644057.2:n.432-3C>T
ENST00000645004.2:n.1488-3C>T
ENST00000682051.1:n.4148C>T
ENST00000682110.1:n.4201C>T
ENST00000682140.1:c.3985+144C>T	ENSP00000507829.1:n.3985+144C>T
ENST00000682185.1:n.5294-3C>T
ENST00000682204.1:c.*2127-3C>T	ENSP00000507094.1:n.*2127-3C>T
ENST00000682215.1:n.4568C>T
ENST00000682288.1:c.*2420-3C>T	ENSP00000507506.1:n.*2420-3C>T
ENST00000682442.1:n.4421C>T
ENST00000682528.1:n.4278C>T
ENST00000682673.1:n.4145C>T
ENST00000682805.1:n.4568C>T
ENST00000682965.1:c.*411-3C>T	ENSP00000508229.1:n.*411-3C>T
ENST00000683093.1:n.4300C>T
ENST00000683136.1:c.3872-3C>T	ENSP00000507768.1:n.3872-3C>T
ENST00000683153.1:n.4243C>T
ENST00000683365.1:n.4303C>T
ENST00000683377.1:n.4201C>T
ENST00000683456.1:c.*1126-3C>T	ENSP00000508318.1:n.*1126-3C>T
ENST00000683522.1:n.4201C>T
ENST00000683562.1:c.*2158-3C>T	ENSP00000508265.1:n.*2158-3C>T
ENST00000683693.1:n.4648C>T
ENST00000683725.1:c.3989-3C>T	ENSP00000507496.1:n.3989-3C>T
ENST00000684010.1:n.4196C>T
ENST00000684157.1:n.4201C>T
ENST00000684253.1:n.4104C>T
ENST00000684288.1:c.*2161-3C>T	ENSP00000507143.1:n.*2161-3C>T
ENST00000684313.1:n.3633C>T
ENST00000684332.1:n.4274C>T
ENST00000684371.1:n.4307C>T
ENST00000684404.1:n.4244C>T
ENST00000684442.1:n.4428-3C>T
ENST00000684555.1:c.*2201-3C>T	ENSP00000507705.1:n.*2201-3C>T
ENST00000684571.1:c.3830-3C>T	ENSP00000506935.1:n.3830-3C>T
ENST00000684593.1:c.*3694-3C>T	ENSP00000507005.1:n.*3694-3C>T
ENST00000684711.1:c.*2385-3C>T	ENSP00000506841.1:n.*2385-3C>T
ENST00000302539.9:c.3992-3C>T	ENSP00000303960.4:n.3992-3C>T
ENST00000389817.8:c.3989-3C>T MANE Select	ENSP00000374467.4:n.3989-3C>T
ENST00000642271.1:c.3986-3C>T	ENSP00000493749.1:n.3986-3C>T
ENST00000642579.1:c.2073-33C>T
ENST00000642611.1:n.4086C>T
ENST00000642902.1:c.3771-3C>T
ENST00000643260.1:c.3989-3C>T	ENSP00000494450.1:n.3989-3C>T
ENST00000643562.1:c.*2108C>T	ENSP00000496124.1:n.*2108C>T
ENST00000643925.1:c.2626C>T
ENST00000644057.1:n.63C>T
ENST00000644484.1:c.*2387C>T	ENSP00000493558.1:n.*2387C>T
ENST00000644675.1:c.*2161-3C>T	ENSP00000494567.1:n.*2161-3C>T
ENST00000644757.1:c.*2417C>T	ENSP00000495085.1:n.*2417C>T
ENST00000644772.1:c.4055-3C>T	ENSP00000494321.1:n.4055-3C>T
ENST00000645004.1:n.1641C>T
ENST00000645076.1:c.3188-3C>T
ENST00000645417.1:c.1177-3C>T
ENST00000645744.1:c.*2766C>T	ENSP00000494564.1:n.*2766C>T
ENST00000645760.1:c.4407C>T
ENST00000645884.1:c.*1269C>T	ENSP00000495516.1:n.*1269C>T
ENST00000646003.1:c.*2088C>T	ENSP00000495259.1:n.*2088C>T
ENST00000646207.1:c.*2826-3C>T	ENSP00000495025.1:n.*2826-3C>T
ENST00000646276.1:c.*2405C>T	ENSP00000496070.1:n.*2405C>T
ENST00000646592.1:c.3295-3C>T
ENST00000646902.1:c.3986-33C>T	ENSP00000494101.1:n.3986-33C>T
ENST00000646993.1:c.*2528C>T	ENSP00000493720.1:n.*2528C>T
ENST00000647013.1:c.3995-3C>T	ENSP00000496741.1:n.3995-3C>T
ENST00000647015.1:c.3740-3C>T	ENSP00000495389.1:n.3740-3C>T
ENST00000647086.1:c.*3605-33C>T	ENSP00000493677.1:n.*3605-33C>T
ENST00000647158.1:c.*2273C>T	ENSP00000495744.1:n.*2273C>T
ENST00000302539.8:c.3992-3C>T	ENSP00000303960.4:n.3992-3C>T
ENST00000389817.7:c.3989-3C>T	ENSP00000374467.3:n.3989-3C>T
ENST00000527905.5:c.*1008C>T	ENSP00000431653.1:n.*1008C>T
ENST00000528374.1:c.468C>T
ENST00000531137.1:n.551C>T
ENST00000531891.1:c.357-33C>T
ENST00000532220.1:n.460C>T
NM_000352.4:c.3989-3C>T	NP_000343.2:n.3989-3C>T
NM_001287174.1:c.3992-3C>T	NP_001274103.1:n.3992-3C>T
XM_011520331.1:c.3989-3C>T	XP_011518633.1:n.3989-3C>T
XM_011520332.1:c.3992-3C>T	XP_011518634.1:n.3992-3C>T
XM_011520333.1:c.2489-3C>T	XP_011518635.1:n.2489-3C>T
XR_930890.1:n.4055-3C>T
NM_001351295.1:c.4055-3C>T	NP_001338224.1:n.4055-3C>T
NM_001351296.1:c.3989-3C>T	NP_001338225.1:n.3989-3C>T
NM_001351297.1:c.3986-3C>T	NP_001338226.1:n.3986-3C>T
NR_147094.1:n.4281C>T
XM_017018197.2:c.4058-3C>T	XP_016873686.1:n.4058-3C>T
XM_017018199.1:c.4055-3C>T	XP_016873688.1:n.4055-3C>T
XM_017018201.2:c.4058-3C>T	XP_016873690.1:n.4058-3C>T
XM_017018202.1:c.2555-3C>T	XP_016873691.1:n.2555-3C>T
XM_017018204.1:c.1946-3C>T	XP_016873693.1:n.1946-3C>T
XM_024448668.1:c.2357-3C>T	XP_024304436.1:n.2357-3C>T
XR_001747945.2:n.4130-3C>T
XR_001747946.2:n.4061-3C>T
XR_002957189.1:n.4723C>T
NM_000352.6:c.3989-3C>T MANE Select	NP_000343.2:n.3989-3C>T
NM_001287174.2:c.3992-3C>T	NP_001274103.1:n.3992-3C>T
NM_001351295.2:c.4055-3C>T	NP_001338224.1:n.4055-3C>T
NM_001351296.2:c.3989-3C>T	NP_001338225.1:n.3989-3C>T
NM_001351297.2:c.3986-3C>T	NP_001338226.1:n.3986-3C>T
NR_147094.2:n.4281C>T
NM_001287174.3:c.3992-3C>T	NP_001274103.1:n.3992-3C>T