Canonical Allele Identifier: CA5902656

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397314C>T , CM000673.2:g.17397314C>T	GRCh38
NC_000011.9:g.17418861C>T , CM000673.1:g.17418861C>T	GRCh37
NC_000011.8:g.17375437C>T	NCBI36
NG_008867.1:g.84589G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3868-1G>A MANE Select	NP_000343.2:n.3868-1G>A
ENST00000389817.8:c.3868-1G>A MANE Select	ENSP00000374467.4:n.3868-1G>A
NM_000352.4:c.3868-1G>A	NP_000343.2:n.3868-1G>A
NM_001287174.1:c.3871-1G>A	NP_001274103.1:n.3871-1G>A
NM_001287174.2:c.3871-1G>A	NP_001274103.1:n.3871-1G>A
NM_001287174.3:c.3871-1G>A	NP_001274103.1:n.3871-1G>A
NM_001351295.1:c.3934-1G>A	NP_001338224.1:n.3934-1G>A
NM_001351295.2:c.3934-1G>A	NP_001338224.1:n.3934-1G>A
NM_001351296.1:c.3868-1G>A	NP_001338225.1:n.3868-1G>A
NM_001351296.2:c.3868-1G>A	NP_001338225.1:n.3868-1G>A
NM_001351297.1:c.3865-1G>A	NP_001338226.1:n.3865-1G>A
NM_001351297.2:c.3865-1G>A	NP_001338226.1:n.3865-1G>A
NR_147094.1:n.4017-1G>A
NR_147094.2:n.4017-1G>A
ENST00000302539.8:c.3871-1G>A	ENSP00000303960.4:n.3871-1G>A
ENST00000302539.9:c.3871-1G>A	ENSP00000303960.4:n.3871-1G>A
ENST00000389817.7:c.3868-1G>A	ENSP00000374467.3:n.3868-1G>A
ENST00000524561.2:n.3323-1G>A
ENST00000527905.5:c.*744-1G>A	ENSP00000431653.1:n.*744-1G>A
ENST00000528374.1:c.338-1G>A
ENST00000528374.2:c.447-1G>A
ENST00000529967.6:n.2207-1G>A
ENST00000531137.1:n.287-1G>A
ENST00000531891.1:c.236-1G>A
ENST00000532220.1:n.195G>A
ENST00000532220.2:n.1969G>A
ENST00000642271.1:c.3865-1G>A	ENSP00000493749.1:n.3865-1G>A
ENST00000642579.1:c.1952-1G>A
ENST00000642611.1:n.3822-1G>A
ENST00000642611.2:n.3937-1G>A
ENST00000642902.1:c.3650-1G>A
ENST00000643260.1:c.3868-1G>A	ENSP00000494450.1:n.3868-1G>A
ENST00000643562.1:c.*1844-1G>A	ENSP00000496124.1:n.*1844-1G>A
ENST00000643925.1:c.2361G>A
ENST00000644057.2:n.311-1G>A
ENST00000644447.1:c.2319-1G>A	ENSP00000496282.1:n.2319-1G>A
ENST00000644484.1:c.*2123-1G>A	ENSP00000493558.1:n.*2123-1G>A
ENST00000644675.1:c.*2040-1G>A	ENSP00000494567.1:n.*2040-1G>A
ENST00000644757.1:c.*2153-1G>A	ENSP00000495085.1:n.*2153-1G>A
ENST00000644772.1:c.3934-1G>A	ENSP00000494321.1:n.3934-1G>A
ENST00000645004.1:n.1376G>A
ENST00000645004.2:n.1367-1G>A
ENST00000645076.1:c.3067-1G>A
ENST00000645417.1:c.1056-1G>A
ENST00000645744.1:c.*2501G>A	ENSP00000494564.1:n.*2501G>A
ENST00000645760.1:c.4143-1G>A
ENST00000645884.1:c.*1005-1G>A	ENSP00000495516.1:n.*1005-1G>A
ENST00000646003.1:c.*1824-1G>A	ENSP00000495259.1:n.*1824-1G>A
ENST00000646207.1:c.*2704G>A	ENSP00000495025.1:n.*2704G>A
ENST00000646276.1:c.*2141-1G>A	ENSP00000496070.1:n.*2141-1G>A
ENST00000646592.1:c.3174-1G>A
ENST00000646902.1:c.3865-1G>A	ENSP00000494101.1:n.3865-1G>A
ENST00000646993.1:c.*2264-1G>A	ENSP00000493720.1:n.*2264-1G>A
ENST00000647013.1:c.3874-1G>A	ENSP00000496741.1:n.3874-1G>A
ENST00000647015.1:c.3619-1G>A	ENSP00000495389.1:n.3619-1G>A
ENST00000647086.1:c.*3484-1G>A	ENSP00000493677.1:n.*3484-1G>A
ENST00000647158.1:c.*2009-1G>A	ENSP00000495744.1:n.*2009-1G>A
ENST00000682051.1:n.3884-1G>A
ENST00000682110.1:n.3937-1G>A
ENST00000682140.1:c.3865-1G>A	ENSP00000507829.1:n.3865-1G>A
ENST00000682185.1:n.5173-1G>A
ENST00000682204.1:c.*2006-1G>A	ENSP00000507094.1:n.*2006-1G>A
ENST00000682215.1:n.4303G>A
ENST00000682288.1:c.*2299-1G>A	ENSP00000507506.1:n.*2299-1G>A
ENST00000682442.1:n.4157-1G>A
ENST00000682528.1:n.4014-1G>A
ENST00000682673.1:n.3881-1G>A
ENST00000682805.1:n.4303G>A
ENST00000682965.1:c.*290-1G>A	ENSP00000508229.1:n.*290-1G>A
ENST00000683093.1:n.4036-1G>A
ENST00000683136.1:c.3751-1G>A	ENSP00000507768.1:n.3751-1G>A
ENST00000683153.1:n.3979-1G>A
ENST00000683365.1:n.4039-1G>A
ENST00000683377.1:n.3937-1G>A
ENST00000683456.1:c.*1005-1G>A	ENSP00000508318.1:n.*1005-1G>A
ENST00000683522.1:n.3937-1G>A
ENST00000683562.1:c.*2037-1G>A	ENSP00000508265.1:n.*2037-1G>A
ENST00000683693.1:n.4383G>A
ENST00000683725.1:c.3868-1G>A	ENSP00000507496.1:n.3868-1G>A
ENST00000684010.1:n.3932-1G>A
ENST00000684157.1:n.3937-1G>A
ENST00000684253.1:n.3840-1G>A
ENST00000684288.1:c.*2040-1G>A	ENSP00000507143.1:n.*2040-1G>A
ENST00000684313.1:n.3369-1G>A
ENST00000684332.1:n.4010-1G>A
ENST00000684371.1:n.4043-1G>A
ENST00000684404.1:n.3980-1G>A
ENST00000684442.1:n.4306G>A
ENST00000684555.1:c.*2080-1G>A	ENSP00000507705.1:n.*2080-1G>A
ENST00000684571.1:c.3709-1G>A	ENSP00000506935.1:n.3709-1G>A
ENST00000684593.1:c.*3573-1G>A	ENSP00000507005.1:n.*3573-1G>A
ENST00000684711.1:c.*2264-1G>A	ENSP00000506841.1:n.*2264-1G>A
XM_011520331.1:c.3868-1G>A	XP_011518633.1:n.3868-1G>A
XM_011520332.1:c.3871-1G>A	XP_011518634.1:n.3871-1G>A
XM_011520333.1:c.2368-1G>A	XP_011518635.1:n.2368-1G>A
XM_017018197.2:c.3937-1G>A	XP_016873686.1:n.3937-1G>A
XM_017018199.1:c.3934-1G>A	XP_016873688.1:n.3934-1G>A
XM_017018201.2:c.3937-1G>A	XP_016873690.1:n.3937-1G>A
XM_017018202.1:c.2434-1G>A	XP_016873691.1:n.2434-1G>A
XM_017018204.1:c.1825-1G>A	XP_016873693.1:n.1825-1G>A
XM_024448668.1:c.2236-1G>A	XP_024304436.1:n.2236-1G>A
XR_001747945.2:n.4009-1G>A
XR_001747946.2:n.3940-1G>A
XR_002957189.1:n.4458G>A
XR_930890.1:n.3934-1G>A