Canonical Allele Identifier: CA10587109
Community Standard Title: NM_000352.6(ABCC8):c.2427A>G (p.Pro809=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17413442T>C , CM000673.2:g.17413442T>C GRCh38
NC_000011.9:g.17434989T>C , CM000673.1:g.17434989T>C GRCh37
NC_000011.8:g.17391565T>C NCBI36
NG_008867.1:g.68461A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.2427A>G MANE Select NP_000343.2:p.Pro809=
ENST00000389817.8:c.2427A>G MANE Select ENSP00000374467.4:p.Pro809=
NM_000352.4:c.2427A>G NP_000343.2:p.Pro809=
NM_001287174.1:c.2430A>G NP_001274103.1:p.Pro810=
NM_001287174.2:c.2430A>G NP_001274103.1:p.Pro810=
NM_001287174.3:c.2430A>G NP_001274103.1:p.Pro810=
NM_001351295.1:c.2493A>G NP_001338224.1:p.Pro831=
NM_001351295.2:c.2493A>G NP_001338224.1:p.Pro831=
NM_001351296.1:c.2427A>G NP_001338225.1:p.Pro809=
NM_001351296.2:c.2427A>G NP_001338225.1:p.Pro809=
NM_001351297.1:c.2424A>G NP_001338226.1:p.Pro808=
NM_001351297.2:c.2424A>G NP_001338226.1:p.Pro808=
NR_147094.1:n.2496A>G
NR_147094.2:n.2496A>G
ENST00000302539.8:c.2430A>G ENSP00000303960.4:p.Pro810=
ENST00000302539.9:c.2430A>G ENSP00000303960.4:p.Pro810=
ENST00000389817.7:c.2427A>G ENSP00000374467.3:p.Pro809=
ENST00000524561.2:n.2096A>G
ENST00000526921.5:n.111A>G
ENST00000527905.5:c.2397A>G ENSP00000431653.1:p.Pro799=
ENST00000529967.5:n.96A>G
ENST00000529967.6:n.686A>G
ENST00000530147.5:n.58+37A>G
ENST00000531911.1:n.541A>G
ENST00000642271.1:c.2424A>G ENSP00000493749.1:p.Pro808=
ENST00000642579.1:c.511A>G
ENST00000642611.1:n.2381A>G
ENST00000642611.2:n.2496A>G
ENST00000642902.1:c.2262A>G
ENST00000643260.1:c.2427A>G ENSP00000494450.1:p.Pro809=
ENST00000643562.1:c.*403A>G ENSP00000496124.1:n.*403A>G
ENST00000643925.1:c.367A>G
ENST00000644447.1:c.783A>G ENSP00000496282.1:p.Pro261=
ENST00000644472.1:c.*788A>G ENSP00000495378.1:n.*788A>G
ENST00000644484.1:c.*636A>G ENSP00000493558.1:n.*636A>G
ENST00000644542.1:c.*2132A>G ENSP00000495532.1:n.*2132A>G
ENST00000644675.1:c.*599A>G ENSP00000494567.1:n.*599A>G
ENST00000644757.1:c.*732A>G ENSP00000495085.1:n.*732A>G
ENST00000644772.1:c.2493A>G ENSP00000494321.1:p.Pro831=
ENST00000645076.1:c.1679A>G
ENST00000645744.1:c.*791A>G ENSP00000494564.1:n.*791A>G
ENST00000645760.1:c.2702A>G
ENST00000645884.1:c.2427A>G ENSP00000495516.1:p.Pro809=
ENST00000646003.1:c.*532-696A>G ENSP00000495259.1:n.*532-696A>G
ENST00000646207.1:c.*791A>G ENSP00000495025.1:n.*791A>G
ENST00000646276.1:c.*700A>G ENSP00000496070.1:n.*700A>G
ENST00000646592.1:c.1653A>G
ENST00000646902.1:c.2424A>G ENSP00000494101.1:p.Pro808=
ENST00000646993.1:c.*823A>G ENSP00000493720.1:n.*823A>G
ENST00000647013.1:c.2433A>G ENSP00000496741.1:n.2433A>G
ENST00000647015.1:c.2178A>G ENSP00000495389.1:p.Pro726=
ENST00000647086.1:c.*2157A>G ENSP00000493677.1:n.*2157A>G
ENST00000647158.1:c.*568A>G ENSP00000495744.1:n.*568A>G
ENST00000682051.1:n.2443A>G
ENST00000682110.1:n.2496A>G
ENST00000682140.1:c.2424A>G ENSP00000507829.1:p.Pro808=
ENST00000682185.1:n.3732A>G
ENST00000682204.1:c.*565A>G ENSP00000507094.1:n.*565A>G
ENST00000682215.1:n.2493A>G
ENST00000682288.1:c.*858A>G ENSP00000507506.1:n.*858A>G
ENST00000682442.1:n.2617A>G
ENST00000682528.1:n.2493A>G
ENST00000682673.1:n.2440A>G
ENST00000682805.1:n.2493A>G
ENST00000682965.1:c.2424A>G ENSP00000508229.1:p.Pro808=
ENST00000683093.1:n.2595A>G
ENST00000683136.1:c.2424A>G ENSP00000507768.1:p.Pro808=
ENST00000683153.1:n.2652A>G
ENST00000683365.1:n.2598A>G
ENST00000683377.1:n.2496A>G
ENST00000683456.1:c.2427A>G ENSP00000508318.1:p.Pro809=
ENST00000683522.1:n.2496A>G
ENST00000683562.1:c.*596A>G ENSP00000508265.1:n.*596A>G
ENST00000683693.1:n.2493A>G
ENST00000683725.1:c.2427A>G ENSP00000507496.1:p.Pro809=
ENST00000684010.1:n.2460-696A>G
ENST00000684157.1:n.2496A>G
ENST00000684253.1:n.2399A>G
ENST00000684288.1:c.*599A>G ENSP00000507143.1:n.*599A>G
ENST00000684313.1:n.1928A>G
ENST00000684332.1:n.2569A>G
ENST00000684371.1:n.2602A>G
ENST00000684404.1:n.2493A>G
ENST00000684442.1:n.2496A>G
ENST00000684555.1:c.*639A>G ENSP00000507705.1:n.*639A>G
ENST00000684571.1:c.2268A>G ENSP00000506935.1:p.Pro756=
ENST00000684593.1:c.*2132A>G ENSP00000507005.1:n.*2132A>G
ENST00000684711.1:c.*823A>G ENSP00000506841.1:n.*823A>G
XM_011520331.1:c.2427A>G XP_011518633.1:p.Pro809=
XM_011520332.1:c.2430A>G XP_011518634.1:p.Pro810=
XM_011520333.1:c.927A>G XP_011518635.1:p.Pro309=
XM_011520334.1:c.2430A>G XP_011518636.1:p.Pro810=
XM_017018197.2:c.2496A>G XP_016873686.1:p.Pro832=
XM_017018199.1:c.2493A>G XP_016873688.1:p.Pro831=
XM_017018201.2:c.2496A>G XP_016873690.1:p.Pro832=
XM_017018202.1:c.993A>G XP_016873691.1:p.Pro331=
XM_017018204.1:c.384A>G XP_016873693.1:p.Pro128=
XM_024448668.1:c.795A>G XP_024304436.1:p.Pro265=
XR_001747945.2:n.2568A>G
XR_001747946.2:n.2499A>G
XR_002957189.1:n.2568A>G
XR_930890.1:n.2493A>G
XR_930891.1:n.2493A>G
XR_930892.1:n.2493A>G
XR_930893.1:n.2490A>G