Canonical Allele Identifier: CA2612640866

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396411-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396411C>A , CM000673.2:g.17396411C>A	GRCh38
NC_000011.9:g.17417958C>A , CM000673.1:g.17417958C>A	GRCh37
NC_000011.8:g.17374534C>A	NCBI36
NG_008867.1:g.85492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3721-481G>T
ENST00000528374.2:c.711-481G>T
ENST00000529967.6:n.2459-481G>T
ENST00000532220.2:n.2872G>T
ENST00000642611.2:n.4839G>T
ENST00000644057.2:n.563-481G>T
ENST00000645004.2:n.1619-481G>T
ENST00000682051.1:n.4282-481G>T
ENST00000682110.1:n.4335-481G>T
ENST00000682140.1:c.3986-481G>T	ENSP00000507829.1:n.3986-481G>T
ENST00000682185.1:n.5425-481G>T
ENST00000682204.1:c.*2258-481G>T	ENSP00000507094.1:n.*2258-481G>T
ENST00000682215.1:n.4702-481G>T
ENST00000682288.1:c.*2551-481G>T	ENSP00000507506.1:n.*2551-481G>T
ENST00000682442.1:n.4555-481G>T
ENST00000682528.1:n.4412-481G>T
ENST00000682673.1:n.4279-481G>T
ENST00000682805.1:n.4739+467G>T
ENST00000682965.1:c.*542-481G>T	ENSP00000508229.1:n.*542-481G>T
ENST00000683093.1:n.4938G>T
ENST00000683136.1:c.4003-481G>T	ENSP00000507768.1:n.4003-481G>T
ENST00000683153.1:n.4377-481G>T
ENST00000683365.1:n.4437-481G>T
ENST00000683377.1:n.4335-481G>T
ENST00000683456.1:c.*1257-481G>T	ENSP00000508318.1:n.*1257-481G>T
ENST00000683522.1:n.4335-481G>T
ENST00000683562.1:c.*2289-481G>T	ENSP00000508265.1:n.*2289-481G>T
ENST00000683693.1:n.5286G>T
ENST00000683725.1:c.4120-481G>T	ENSP00000507496.1:n.4120-481G>T
ENST00000684010.1:n.4330-481G>T
ENST00000684157.1:n.4839G>T
ENST00000684253.1:n.4238-481G>T
ENST00000684288.1:c.*2292-481G>T	ENSP00000507143.1:n.*2292-481G>T
ENST00000684313.1:n.3767-481G>T
ENST00000684332.1:n.4408-481G>T
ENST00000684371.1:n.4441-481G>T
ENST00000684404.1:n.4882G>T
ENST00000684442.1:n.4559-481G>T
ENST00000684555.1:c.*2332-481G>T	ENSP00000507705.1:n.*2332-481G>T
ENST00000684571.1:c.3961-481G>T	ENSP00000506935.1:n.3961-481G>T
ENST00000684593.1:c.*3825-481G>T	ENSP00000507005.1:n.*3825-481G>T
ENST00000684711.1:c.*2516-481G>T	ENSP00000506841.1:n.*2516-481G>T
ENST00000302539.9:c.4123-481G>T	ENSP00000303960.4:n.4123-481G>T
ENST00000389817.8:c.4120-481G>T MANE Select	ENSP00000374467.4:n.4120-481G>T
ENST00000642271.1:c.4117-481G>T	ENSP00000493749.1:n.4117-481G>T
ENST00000642579.1:c.2174-481G>T
ENST00000642611.1:n.4724G>T
ENST00000642902.1:c.3902-481G>T
ENST00000643260.1:c.4120-481G>T	ENSP00000494450.1:n.4120-481G>T
ENST00000643562.1:c.*2242-481G>T	ENSP00000496124.1:n.*2242-481G>T
ENST00000643925.1:c.2760-481G>T
ENST00000644057.1:n.197-481G>T
ENST00000644484.1:c.*3025G>T	ENSP00000493558.1:n.*3025G>T
ENST00000644675.1:c.*2292-481G>T	ENSP00000494567.1:n.*2292-481G>T
ENST00000644757.1:c.*3055G>T	ENSP00000495085.1:n.*3055G>T
ENST00000644772.1:c.4186-481G>T	ENSP00000494321.1:n.4186-481G>T
ENST00000645004.1:n.1812+467G>T
ENST00000645076.1:c.3319-481G>T
ENST00000645417.1:c.1308-481G>T
ENST00000645744.1:c.*3404G>T	ENSP00000494564.1:n.*3404G>T
ENST00000645760.1:c.4541-481G>T
ENST00000645884.1:c.*1403-481G>T	ENSP00000495516.1:n.*1403-481G>T
ENST00000646003.1:c.*2222-481G>T	ENSP00000495259.1:n.*2222-481G>T
ENST00000646207.1:c.*2957-481G>T	ENSP00000495025.1:n.*2957-481G>T
ENST00000646276.1:c.*3043G>T	ENSP00000496070.1:n.*3043G>T
ENST00000646592.1:c.3426-481G>T
ENST00000646902.1:c.4087-481G>T	ENSP00000494101.1:n.4087-481G>T
ENST00000646993.1:c.*2662-481G>T	ENSP00000493720.1:n.*2662-481G>T
ENST00000647013.1:c.4126-481G>T	ENSP00000496741.1:n.4126-481G>T
ENST00000647015.1:c.3871-481G>T	ENSP00000495389.1:n.3871-481G>T
ENST00000647086.1:c.*3706-481G>T	ENSP00000493677.1:n.*3706-481G>T
ENST00000647158.1:c.*2407-481G>T	ENSP00000495744.1:n.*2407-481G>T
ENST00000302539.8:c.4123-481G>T	ENSP00000303960.4:n.4123-481G>T
ENST00000389817.7:c.4120-481G>T	ENSP00000374467.3:n.4120-481G>T
ENST00000528374.1:c.602-481G>T
ENST00000532220.1:n.594-481G>T
NM_000352.4:c.4120-481G>T	NP_000343.2:n.4120-481G>T
NM_001287174.1:c.4123-481G>T	NP_001274103.1:n.4123-481G>T
XM_011520331.1:c.4120-481G>T	XP_011518633.1:n.4120-481G>T
XM_011520332.1:c.4123-481G>T	XP_011518634.1:n.4123-481G>T
XM_011520333.1:c.2620-481G>T	XP_011518635.1:n.2620-481G>T
XR_930890.1:n.4186-481G>T
NM_001351295.1:c.4186-481G>T	NP_001338224.1:n.4186-481G>T
NM_001351296.1:c.4120-481G>T	NP_001338225.1:n.4120-481G>T
NM_001351297.1:c.4117-481G>T	NP_001338226.1:n.4117-481G>T
NR_147094.1:n.4415-481G>T
XM_017018197.2:c.4189-481G>T	XP_016873686.1:n.4189-481G>T
XM_017018199.1:c.4186-481G>T	XP_016873688.1:n.4186-481G>T
XM_017018201.2:c.4189-481G>T	XP_016873690.1:n.4189-481G>T
XM_017018202.1:c.2686-481G>T	XP_016873691.1:n.2686-481G>T
XM_017018204.1:c.2077-481G>T	XP_016873693.1:n.2077-481G>T
XM_024448668.1:c.2488-481G>T	XP_024304436.1:n.2488-481G>T
XR_001747945.2:n.4261-481G>T
XR_001747946.2:n.4192-481G>T
XR_002957189.1:n.5361G>T
NM_000352.6:c.4120-481G>T MANE Select	NP_000343.2:n.4120-481G>T
NM_001287174.2:c.4123-481G>T	NP_001274103.1:n.4123-481G>T
NM_001351295.2:c.4186-481G>T	NP_001338224.1:n.4186-481G>T
NM_001351296.2:c.4120-481G>T	NP_001338225.1:n.4120-481G>T
NM_001351297.2:c.4117-481G>T	NP_001338226.1:n.4117-481G>T
NR_147094.2:n.4415-481G>T
NM_001287174.3:c.4123-481G>T	NP_001274103.1:n.4123-481G>T