Canonical Allele Identifier: CA2612639810

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395993-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395993C>A , CM000673.2:g.17395993C>A	GRCh38
NC_000011.9:g.17417540C>A , CM000673.1:g.17417540C>A	GRCh37
NC_000011.8:g.17374116C>A	NCBI36
NG_008867.1:g.85910G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3721-63G>T
ENST00000528374.2:c.711-63G>T
ENST00000529967.6:n.2459-63G>T
ENST00000532220.2:n.3290G>T
ENST00000642611.2:n.5257G>T
ENST00000644057.2:n.563-63G>T
ENST00000645004.2:n.1619-63G>T
ENST00000682051.1:n.4282-63G>T
ENST00000682110.1:n.4335-63G>T
ENST00000682140.1:c.3986-63G>T	ENSP00000507829.1:n.3986-63G>T
ENST00000682185.1:n.5425-63G>T
ENST00000682204.1:c.*2258-63G>T	ENSP00000507094.1:n.*2258-63G>T
ENST00000682215.1:n.4702-63G>T
ENST00000682288.1:c.*2551-63G>T	ENSP00000507506.1:n.*2551-63G>T
ENST00000682442.1:n.4555-63G>T
ENST00000682528.1:n.4412-63G>T
ENST00000682673.1:n.4279-63G>T
ENST00000682805.1:n.4740-63G>T
ENST00000682965.1:c.*542-63G>T	ENSP00000508229.1:n.*542-63G>T
ENST00000683093.1:n.5356G>T
ENST00000683136.1:c.4003-63G>T	ENSP00000507768.1:n.4003-63G>T
ENST00000683153.1:n.4377-63G>T
ENST00000683365.1:n.4437-63G>T
ENST00000683377.1:n.4335-63G>T
ENST00000683456.1:c.*1257-63G>T	ENSP00000508318.1:n.*1257-63G>T
ENST00000683522.1:n.4335-63G>T
ENST00000683562.1:c.*2289-63G>T	ENSP00000508265.1:n.*2289-63G>T
ENST00000683693.1:n.5704G>T
ENST00000683725.1:c.4120-63G>T	ENSP00000507496.1:n.4120-63G>T
ENST00000684010.1:n.4330-63G>T
ENST00000684157.1:n.5257G>T
ENST00000684253.1:n.4238-63G>T
ENST00000684288.1:c.*2292-63G>T	ENSP00000507143.1:n.*2292-63G>T
ENST00000684313.1:n.3767-63G>T
ENST00000684332.1:n.4408-63G>T
ENST00000684371.1:n.4441-63G>T
ENST00000684404.1:n.5300G>T
ENST00000684442.1:n.4559-63G>T
ENST00000684555.1:c.*2332-63G>T	ENSP00000507705.1:n.*2332-63G>T
ENST00000684571.1:c.3961-63G>T	ENSP00000506935.1:n.3961-63G>T
ENST00000684593.1:c.*3825-63G>T	ENSP00000507005.1:n.*3825-63G>T
ENST00000684711.1:c.*2516-63G>T	ENSP00000506841.1:n.*2516-63G>T
ENST00000302539.9:c.4123-63G>T	ENSP00000303960.4:n.4123-63G>T
ENST00000389817.8:c.4120-63G>T MANE Select	ENSP00000374467.4:n.4120-63G>T
ENST00000642271.1:c.4117-63G>T	ENSP00000493749.1:n.4117-63G>T
ENST00000642579.1:c.2174-63G>T
ENST00000642611.1:n.5142G>T
ENST00000642902.1:c.3902-63G>T
ENST00000643260.1:c.4120-63G>T	ENSP00000494450.1:n.4120-63G>T
ENST00000643562.1:c.*2242-63G>T	ENSP00000496124.1:n.*2242-63G>T
ENST00000643925.1:c.2760-63G>T
ENST00000644057.1:n.197-63G>T
ENST00000644484.1:c.*3443G>T	ENSP00000493558.1:n.*3443G>T
ENST00000644675.1:c.*2292-63G>T	ENSP00000494567.1:n.*2292-63G>T
ENST00000644757.1:c.*3202+271G>T	ENSP00000495085.1:n.*3202+271G>T
ENST00000644772.1:c.4186-63G>T	ENSP00000494321.1:n.4186-63G>T
ENST00000645004.1:n.1813-63G>T
ENST00000645076.1:c.3319-63G>T
ENST00000645417.1:c.1308-63G>T
ENST00000645744.1:c.*3822G>T	ENSP00000494564.1:n.*3822G>T
ENST00000645760.1:c.4541-63G>T
ENST00000645884.1:c.*1403-63G>T	ENSP00000495516.1:n.*1403-63G>T
ENST00000646003.1:c.*2222-63G>T	ENSP00000495259.1:n.*2222-63G>T
ENST00000646207.1:c.*2957-63G>T	ENSP00000495025.1:n.*2957-63G>T
ENST00000646276.1:c.*3461G>T	ENSP00000496070.1:n.*3461G>T
ENST00000646592.1:c.3426-63G>T
ENST00000646902.1:c.4087-63G>T	ENSP00000494101.1:n.4087-63G>T
ENST00000646993.1:c.*2662-63G>T	ENSP00000493720.1:n.*2662-63G>T
ENST00000647013.1:c.4126-63G>T	ENSP00000496741.1:n.4126-63G>T
ENST00000647015.1:c.3871-63G>T	ENSP00000495389.1:n.3871-63G>T
ENST00000647086.1:c.*3706-63G>T	ENSP00000493677.1:n.*3706-63G>T
ENST00000647158.1:c.*2407-63G>T	ENSP00000495744.1:n.*2407-63G>T
ENST00000302539.8:c.4123-63G>T	ENSP00000303960.4:n.4123-63G>T
ENST00000389817.7:c.4120-63G>T	ENSP00000374467.3:n.4120-63G>T
ENST00000528374.1:c.602-63G>T
ENST00000532220.1:n.594-63G>T
NM_000352.4:c.4120-63G>T	NP_000343.2:n.4120-63G>T
NM_001287174.1:c.4123-63G>T	NP_001274103.1:n.4123-63G>T
XM_011520331.1:c.4120-63G>T	XP_011518633.1:n.4120-63G>T
XM_011520332.1:c.4123-63G>T	XP_011518634.1:n.4123-63G>T
XM_011520333.1:c.2620-63G>T	XP_011518635.1:n.2620-63G>T
XR_930890.1:n.4186-63G>T
NM_001351295.1:c.4186-63G>T	NP_001338224.1:n.4186-63G>T
NM_001351296.1:c.4120-63G>T	NP_001338225.1:n.4120-63G>T
NM_001351297.1:c.4117-63G>T	NP_001338226.1:n.4117-63G>T
NR_147094.1:n.4415-63G>T
XM_017018197.2:c.4189-63G>T	XP_016873686.1:n.4189-63G>T
XM_017018199.1:c.4186-63G>T	XP_016873688.1:n.4186-63G>T
XM_017018201.2:c.4189-63G>T	XP_016873690.1:n.4189-63G>T
XM_017018202.1:c.2686-63G>T	XP_016873691.1:n.2686-63G>T
XM_017018204.1:c.2077-63G>T	XP_016873693.1:n.2077-63G>T
XM_024448668.1:c.2488-63G>T	XP_024304436.1:n.2488-63G>T
XR_001747945.2:n.4261-63G>T
XR_001747946.2:n.4192-63G>T
XR_002957189.1:n.5779G>T
NM_000352.6:c.4120-63G>T MANE Select	NP_000343.2:n.4120-63G>T
NM_001287174.2:c.4123-63G>T	NP_001274103.1:n.4123-63G>T
NM_001351295.2:c.4186-63G>T	NP_001338224.1:n.4186-63G>T
NM_001351296.2:c.4120-63G>T	NP_001338225.1:n.4120-63G>T
NM_001351297.2:c.4117-63G>T	NP_001338226.1:n.4117-63G>T
NR_147094.2:n.4415-63G>T
NM_001287174.3:c.4123-63G>T	NP_001274103.1:n.4123-63G>T