Canonical Allele Identifier: CA2612639749
Gene: ABCC8 HGNC NCBI

Linked Data

gnomAD v4: 11-17395975-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395975C>T , CM000673.2:g.17395975C>T GRCh38
NC_000011.9:g.17417522C>T , CM000673.1:g.17417522C>T GRCh37
NC_000011.8:g.17374098C>T NCBI36
NG_008867.1:g.85928G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3721-45G>A
ENST00000528374.2:c.711-45G>A
ENST00000529967.6:n.2459-45G>A
ENST00000532220.2:n.3308G>A
ENST00000642611.2:n.5275G>A
ENST00000644057.2:n.563-45G>A
ENST00000645004.2:n.1619-45G>A
ENST00000682051.1:n.4282-45G>A
ENST00000682110.1:n.4335-45G>A
ENST00000682140.1:c.3986-45G>A ENSP00000507829.1:n.3986-45G>A
ENST00000682185.1:n.5425-45G>A
ENST00000682204.1:c.*2258-45G>A ENSP00000507094.1:n.*2258-45G>A
ENST00000682215.1:n.4702-45G>A
ENST00000682288.1:c.*2551-45G>A ENSP00000507506.1:n.*2551-45G>A
ENST00000682442.1:n.4555-45G>A
ENST00000682528.1:n.4412-45G>A
ENST00000682673.1:n.4279-45G>A
ENST00000682805.1:n.4740-45G>A
ENST00000682965.1:c.*542-45G>A ENSP00000508229.1:n.*542-45G>A
ENST00000683093.1:n.5374G>A
ENST00000683136.1:c.4003-45G>A ENSP00000507768.1:n.4003-45G>A
ENST00000683153.1:n.4377-45G>A
ENST00000683365.1:n.4437-45G>A
ENST00000683377.1:n.4335-45G>A
ENST00000683456.1:c.*1257-45G>A ENSP00000508318.1:n.*1257-45G>A
ENST00000683522.1:n.4335-45G>A
ENST00000683562.1:c.*2289-45G>A ENSP00000508265.1:n.*2289-45G>A
ENST00000683693.1:n.5722G>A
ENST00000683725.1:c.4120-45G>A ENSP00000507496.1:n.4120-45G>A
ENST00000684010.1:n.4330-45G>A
ENST00000684157.1:n.5275G>A
ENST00000684253.1:n.4238-45G>A
ENST00000684288.1:c.*2292-45G>A ENSP00000507143.1:n.*2292-45G>A
ENST00000684313.1:n.3767-45G>A
ENST00000684332.1:n.4408-45G>A
ENST00000684371.1:n.4441-45G>A
ENST00000684404.1:n.5318G>A
ENST00000684442.1:n.4559-45G>A
ENST00000684555.1:c.*2332-45G>A ENSP00000507705.1:n.*2332-45G>A
ENST00000684571.1:c.3961-45G>A ENSP00000506935.1:n.3961-45G>A
ENST00000684593.1:c.*3825-45G>A ENSP00000507005.1:n.*3825-45G>A
ENST00000684711.1:c.*2516-45G>A ENSP00000506841.1:n.*2516-45G>A
ENST00000302539.9:c.4123-45G>A ENSP00000303960.4:n.4123-45G>A
ENST00000389817.8:c.4120-45G>A MANE Select ENSP00000374467.4:n.4120-45G>A
ENST00000642271.1:c.4117-45G>A ENSP00000493749.1:n.4117-45G>A
ENST00000642579.1:c.2174-45G>A
ENST00000642611.1:n.5160G>A
ENST00000642902.1:c.3902-45G>A
ENST00000643260.1:c.4120-45G>A ENSP00000494450.1:n.4120-45G>A
ENST00000643562.1:c.*2242-45G>A ENSP00000496124.1:n.*2242-45G>A
ENST00000643925.1:c.2760-45G>A
ENST00000644057.1:n.197-45G>A
ENST00000644484.1:c.*3461G>A ENSP00000493558.1:n.*3461G>A
ENST00000644675.1:c.*2292-45G>A ENSP00000494567.1:n.*2292-45G>A
ENST00000644757.1:c.*3202+289G>A ENSP00000495085.1:n.*3202+289G>A
ENST00000644772.1:c.4186-45G>A ENSP00000494321.1:n.4186-45G>A
ENST00000645004.1:n.1813-45G>A
ENST00000645076.1:c.3319-45G>A
ENST00000645417.1:c.1308-45G>A
ENST00000645744.1:c.*3840G>A ENSP00000494564.1:n.*3840G>A
ENST00000645760.1:c.4541-45G>A
ENST00000645884.1:c.*1403-45G>A ENSP00000495516.1:n.*1403-45G>A
ENST00000646003.1:c.*2222-45G>A ENSP00000495259.1:n.*2222-45G>A
ENST00000646207.1:c.*2957-45G>A ENSP00000495025.1:n.*2957-45G>A
ENST00000646276.1:c.*3479G>A ENSP00000496070.1:n.*3479G>A
ENST00000646592.1:c.3426-45G>A
ENST00000646902.1:c.4087-45G>A ENSP00000494101.1:n.4087-45G>A
ENST00000646993.1:c.*2662-45G>A ENSP00000493720.1:n.*2662-45G>A
ENST00000647013.1:c.4126-45G>A ENSP00000496741.1:n.4126-45G>A
ENST00000647015.1:c.3871-45G>A ENSP00000495389.1:n.3871-45G>A
ENST00000647086.1:c.*3706-45G>A ENSP00000493677.1:n.*3706-45G>A
ENST00000647158.1:c.*2407-45G>A ENSP00000495744.1:n.*2407-45G>A
ENST00000302539.8:c.4123-45G>A ENSP00000303960.4:n.4123-45G>A
ENST00000389817.7:c.4120-45G>A ENSP00000374467.3:n.4120-45G>A
ENST00000528374.1:c.602-45G>A
ENST00000532220.1:n.594-45G>A
NM_000352.4:c.4120-45G>A NP_000343.2:n.4120-45G>A
NM_001287174.1:c.4123-45G>A NP_001274103.1:n.4123-45G>A
XM_011520331.1:c.4120-45G>A XP_011518633.1:n.4120-45G>A
XM_011520332.1:c.4123-45G>A XP_011518634.1:n.4123-45G>A
XM_011520333.1:c.2620-45G>A XP_011518635.1:n.2620-45G>A
XR_930890.1:n.4186-45G>A
NM_001351295.1:c.4186-45G>A NP_001338224.1:n.4186-45G>A
NM_001351296.1:c.4120-45G>A NP_001338225.1:n.4120-45G>A
NM_001351297.1:c.4117-45G>A NP_001338226.1:n.4117-45G>A
NR_147094.1:n.4415-45G>A
XM_017018197.2:c.4189-45G>A XP_016873686.1:n.4189-45G>A
XM_017018199.1:c.4186-45G>A XP_016873688.1:n.4186-45G>A
XM_017018201.2:c.4189-45G>A XP_016873690.1:n.4189-45G>A
XM_017018202.1:c.2686-45G>A XP_016873691.1:n.2686-45G>A
XM_017018204.1:c.2077-45G>A XP_016873693.1:n.2077-45G>A
XM_024448668.1:c.2488-45G>A XP_024304436.1:n.2488-45G>A
XR_001747945.2:n.4261-45G>A
XR_001747946.2:n.4192-45G>A
XR_002957189.1:n.5797G>A
NM_000352.6:c.4120-45G>A MANE Select NP_000343.2:n.4120-45G>A
NM_001287174.2:c.4123-45G>A NP_001274103.1:n.4123-45G>A
NM_001351295.2:c.4186-45G>A NP_001338224.1:n.4186-45G>A
NM_001351296.2:c.4120-45G>A NP_001338225.1:n.4120-45G>A
NM_001351297.2:c.4117-45G>A NP_001338226.1:n.4117-45G>A
NR_147094.2:n.4415-45G>A
NM_001287174.3:c.4123-45G>A NP_001274103.1:n.4123-45G>A
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