Canonical Allele Identifier: CA379793722
Community Standard Title: NM_000352.6(ABCC8):c.3754-2A>G
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397799T>C , CM000673.2:g.17397799T>C GRCh38
NC_000011.9:g.17419346T>C , CM000673.1:g.17419346T>C GRCh37
NC_000011.8:g.17375922T>C NCBI36
NG_008867.1:g.84104A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3754-2A>G MANE Select NP_000343.2:n.3754-2A>G
ENST00000389817.8:c.3754-2A>G MANE Select ENSP00000374467.4:n.3754-2A>G
NM_000352.4:c.3754-2A>G NP_000343.2:n.3754-2A>G
NM_001287174.1:c.3757-2A>G NP_001274103.1:n.3757-2A>G
NM_001287174.2:c.3757-2A>G NP_001274103.1:n.3757-2A>G
NM_001287174.3:c.3757-2A>G NP_001274103.1:n.3757-2A>G
NM_001351295.1:c.3820-2A>G NP_001338224.1:n.3820-2A>G
NM_001351295.2:c.3820-2A>G NP_001338224.1:n.3820-2A>G
NM_001351296.1:c.3754-2A>G NP_001338225.1:n.3754-2A>G
NM_001351296.2:c.3754-2A>G NP_001338225.1:n.3754-2A>G
NM_001351297.1:c.3751-2A>G NP_001338226.1:n.3751-2A>G
NM_001351297.2:c.3751-2A>G NP_001338226.1:n.3751-2A>G
NR_147094.1:n.3903-2A>G
NR_147094.2:n.3903-2A>G
ENST00000302539.8:c.3757-2A>G ENSP00000303960.4:n.3757-2A>G
ENST00000302539.9:c.3757-2A>G ENSP00000303960.4:n.3757-2A>G
ENST00000389817.7:c.3754-2A>G ENSP00000374467.3:n.3754-2A>G
ENST00000524561.2:n.3323-486A>G
ENST00000527905.5:c.*630-2A>G ENSP00000431653.1:n.*630-2A>G
ENST00000528374.1:c.224-2A>G
ENST00000528374.2:c.333-2A>G
ENST00000529967.6:n.2093-2A>G
ENST00000531137.1:n.173-2A>G
ENST00000531891.1:c.122-2A>G
ENST00000532220.2:n.1486-2A>G
ENST00000642271.1:c.3751-2A>G ENSP00000493749.1:n.3751-2A>G
ENST00000642579.1:c.1838-2A>G
ENST00000642611.1:n.3708-2A>G
ENST00000642611.2:n.3823-2A>G
ENST00000642902.1:c.3536-2A>G
ENST00000643260.1:c.3754-2A>G ENSP00000494450.1:n.3754-2A>G
ENST00000643562.1:c.*1730-2A>G ENSP00000496124.1:n.*1730-2A>G
ENST00000643925.1:c.1878-2A>G
ENST00000644057.2:n.197-2A>G
ENST00000644447.1:c.2205-2A>G ENSP00000496282.1:n.2205-2A>G
ENST00000644484.1:c.*2009-2A>G ENSP00000493558.1:n.*2009-2A>G
ENST00000644675.1:c.*1926-2A>G ENSP00000494567.1:n.*1926-2A>G
ENST00000644757.1:c.*2039-2A>G ENSP00000495085.1:n.*2039-2A>G
ENST00000644772.1:c.3820-2A>G ENSP00000494321.1:n.3820-2A>G
ENST00000645004.1:n.893-2A>G
ENST00000645004.2:n.1253-2A>G
ENST00000645076.1:c.2953-2A>G
ENST00000645417.1:c.942-2A>G
ENST00000645744.1:c.*2018-2A>G ENSP00000494564.1:n.*2018-2A>G
ENST00000645760.1:c.4029-2A>G
ENST00000645884.1:c.*891-2A>G ENSP00000495516.1:n.*891-2A>G
ENST00000646003.1:c.*1710-2A>G ENSP00000495259.1:n.*1710-2A>G
ENST00000646207.1:c.*2221-2A>G ENSP00000495025.1:n.*2221-2A>G
ENST00000646276.1:c.*2027-2A>G ENSP00000496070.1:n.*2027-2A>G
ENST00000646592.1:c.3060-2A>G
ENST00000646902.1:c.3751-2A>G ENSP00000494101.1:n.3751-2A>G
ENST00000646993.1:c.*2150-2A>G ENSP00000493720.1:n.*2150-2A>G
ENST00000647013.1:c.3760-2A>G ENSP00000496741.1:n.3760-2A>G
ENST00000647015.1:c.3505-2A>G ENSP00000495389.1:n.3505-2A>G
ENST00000647086.1:c.*3484-486A>G ENSP00000493677.1:n.*3484-486A>G
ENST00000647158.1:c.*1895-2A>G ENSP00000495744.1:n.*1895-2A>G
ENST00000682051.1:n.3770-2A>G
ENST00000682110.1:n.3823-2A>G
ENST00000682140.1:c.3751-2A>G ENSP00000507829.1:n.3751-2A>G
ENST00000682185.1:n.5059-2A>G
ENST00000682204.1:c.*1892-2A>G ENSP00000507094.1:n.*1892-2A>G
ENST00000682215.1:n.3820-2A>G
ENST00000682288.1:c.*2185-2A>G ENSP00000507506.1:n.*2185-2A>G
ENST00000682442.1:n.4043-2A>G
ENST00000682528.1:n.3900-2A>G
ENST00000682673.1:n.3767-2A>G
ENST00000682805.1:n.3820-2A>G
ENST00000682965.1:c.*176-2A>G ENSP00000508229.1:n.*176-2A>G
ENST00000683093.1:n.3922-2A>G
ENST00000683136.1:c.3751-486A>G ENSP00000507768.1:n.3751-486A>G
ENST00000683153.1:n.3979-486A>G
ENST00000683365.1:n.3925-2A>G
ENST00000683377.1:n.3823-2A>G
ENST00000683456.1:c.*891-2A>G ENSP00000508318.1:n.*891-2A>G
ENST00000683522.1:n.3823-2A>G
ENST00000683562.1:c.*1923-2A>G ENSP00000508265.1:n.*1923-2A>G
ENST00000683693.1:n.3900-2A>G
ENST00000683725.1:c.3754-2A>G ENSP00000507496.1:n.3754-2A>G
ENST00000684010.1:n.3818-2A>G
ENST00000684157.1:n.3823-2A>G
ENST00000684253.1:n.3726-2A>G
ENST00000684288.1:c.*1926-2A>G ENSP00000507143.1:n.*1926-2A>G
ENST00000684313.1:n.3255-2A>G
ENST00000684332.1:n.3896-2A>G
ENST00000684371.1:n.3929-2A>G
ENST00000684404.1:n.3866-2A>G
ENST00000684442.1:n.3823-2A>G
ENST00000684555.1:c.*1966-2A>G ENSP00000507705.1:n.*1966-2A>G
ENST00000684571.1:c.3595-2A>G ENSP00000506935.1:n.3595-2A>G
ENST00000684593.1:c.*3459-2A>G ENSP00000507005.1:n.*3459-2A>G
ENST00000684711.1:c.*2150-2A>G ENSP00000506841.1:n.*2150-2A>G
XM_011520331.1:c.3754-2A>G XP_011518633.1:n.3754-2A>G
XM_011520332.1:c.3757-2A>G XP_011518634.1:n.3757-2A>G
XM_011520333.1:c.2254-2A>G XP_011518635.1:n.2254-2A>G
XM_017018197.2:c.3823-2A>G XP_016873686.1:n.3823-2A>G
XM_017018199.1:c.3820-2A>G XP_016873688.1:n.3820-2A>G
XM_017018201.2:c.3823-2A>G XP_016873690.1:n.3823-2A>G
XM_017018202.1:c.2320-2A>G XP_016873691.1:n.2320-2A>G
XM_017018204.1:c.1711-2A>G XP_016873693.1:n.1711-2A>G
XM_024448668.1:c.2122-2A>G XP_024304436.1:n.2122-2A>G
XR_001747945.2:n.3895-2A>G
XR_001747946.2:n.3826-2A>G
XR_002957189.1:n.3975-2A>G
XR_930890.1:n.3820-2A>G