Canonical Allele Identifier: CA171071
Community Standard Title: NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17402699G>A , CM000673.2:g.17402699G>A GRCh38
NC_000011.9:g.17424246G>A , CM000673.1:g.17424246G>A GRCh37
NC_000011.8:g.17380822G>A NCBI36
NG_008867.1:g.79204C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3612C>T MANE Select NP_000343.2:p.Ala1204=
ENST00000389817.8:c.3612C>T MANE Select ENSP00000374467.4:p.Ala1204=
NM_000352.4:c.3612C>T NP_000343.2:p.Ala1204=
NM_001287174.1:c.3615C>T NP_001274103.1:p.Ala1205=
NM_001287174.2:c.3615C>T NP_001274103.1:p.Ala1205=
NM_001287174.3:c.3615C>T NP_001274103.1:p.Ala1205=
NM_001351295.1:c.3678C>T NP_001338224.1:p.Ala1226=
NM_001351295.2:c.3678C>T NP_001338224.1:p.Ala1226=
NM_001351296.1:c.3612C>T NP_001338225.1:p.Ala1204=
NM_001351296.2:c.3612C>T NP_001338225.1:p.Ala1204=
NM_001351297.1:c.3609C>T NP_001338226.1:p.Ala1203=
NM_001351297.2:c.3609C>T NP_001338226.1:p.Ala1203=
NR_147094.1:n.3761C>T
NR_147094.2:n.3761C>T
ENST00000302539.8:c.3615C>T ENSP00000303960.4:p.Ala1205=
ENST00000302539.9:c.3615C>T ENSP00000303960.4:p.Ala1205=
ENST00000389817.7:c.3612C>T ENSP00000374467.3:p.Ala1204=
ENST00000524561.2:n.3181C>T
ENST00000527905.5:c.*488C>T ENSP00000431653.1:n.*488C>T
ENST00000528374.1:c.82C>T
ENST00000528374.2:c.191C>T
ENST00000529967.6:n.1951C>T
ENST00000531137.1:n.105C>T
ENST00000532220.2:n.1344C>T
ENST00000642271.1:c.3609C>T ENSP00000493749.1:p.Ala1203=
ENST00000642579.1:c.1696C>T
ENST00000642611.1:n.3566C>T
ENST00000642611.2:n.3681C>T
ENST00000642902.1:c.3394C>T
ENST00000643260.1:c.3612C>T ENSP00000494450.1:p.Ala1204=
ENST00000643562.1:c.*1588C>T ENSP00000496124.1:n.*1588C>T
ENST00000643925.1:c.1736C>T
ENST00000644057.2:n.55C>T
ENST00000644447.1:c.1968C>T ENSP00000496282.1:p.Ala656=
ENST00000644484.1:c.*1867C>T ENSP00000493558.1:n.*1867C>T
ENST00000644675.1:c.*1784C>T ENSP00000494567.1:n.*1784C>T
ENST00000644757.1:c.*1897C>T ENSP00000495085.1:n.*1897C>T
ENST00000644772.1:c.3678C>T ENSP00000494321.1:p.Ala1226=
ENST00000645004.1:n.751C>T
ENST00000645004.2:n.1111C>T
ENST00000645076.1:c.2811C>T
ENST00000645417.1:c.778C>T
ENST00000645744.1:c.*1876C>T ENSP00000494564.1:n.*1876C>T
ENST00000645760.1:c.3887C>T
ENST00000645884.1:c.*749C>T ENSP00000495516.1:n.*749C>T
ENST00000646003.1:c.*1568C>T ENSP00000495259.1:n.*1568C>T
ENST00000646207.1:c.*2079C>T ENSP00000495025.1:n.*2079C>T
ENST00000646276.1:c.*1885C>T ENSP00000496070.1:n.*1885C>T
ENST00000646592.1:c.2918C>T
ENST00000646902.1:c.3609C>T ENSP00000494101.1:p.Ala1203=
ENST00000646993.1:c.*2008C>T ENSP00000493720.1:n.*2008C>T
ENST00000647013.1:c.3618C>T ENSP00000496741.1:n.3618C>T
ENST00000647015.1:c.3363C>T ENSP00000495389.1:p.Ala1121=
ENST00000647086.1:c.*3342C>T ENSP00000493677.1:n.*3342C>T
ENST00000647158.1:c.*1753C>T ENSP00000495744.1:n.*1753C>T
ENST00000682051.1:n.3628C>T
ENST00000682110.1:n.3681C>T
ENST00000682140.1:c.3609C>T ENSP00000507829.1:p.Ala1203=
ENST00000682185.1:n.4917C>T
ENST00000682204.1:c.*1750C>T ENSP00000507094.1:n.*1750C>T
ENST00000682215.1:n.3678C>T
ENST00000682288.1:c.*2043C>T ENSP00000507506.1:n.*2043C>T
ENST00000682442.1:n.3901C>T
ENST00000682528.1:n.3758C>T
ENST00000682673.1:n.3625C>T
ENST00000682805.1:n.3678C>T
ENST00000682965.1:c.*34C>T ENSP00000508229.1:n.*34C>T
ENST00000683093.1:n.3780C>T
ENST00000683136.1:c.3609C>T ENSP00000507768.1:p.Ala1203=
ENST00000683153.1:n.3837C>T
ENST00000683365.1:n.3783C>T
ENST00000683377.1:n.3681C>T
ENST00000683456.1:c.*749C>T ENSP00000508318.1:n.*749C>T
ENST00000683522.1:n.3681C>T
ENST00000683562.1:c.*1781C>T ENSP00000508265.1:n.*1781C>T
ENST00000683693.1:n.3758C>T
ENST00000683725.1:c.3612C>T ENSP00000507496.1:p.Ala1204=
ENST00000684010.1:n.3676C>T
ENST00000684157.1:n.3681C>T
ENST00000684253.1:n.3584C>T
ENST00000684288.1:c.*1784C>T ENSP00000507143.1:n.*1784C>T
ENST00000684313.1:n.3113C>T
ENST00000684332.1:n.3754C>T
ENST00000684371.1:n.3787C>T
ENST00000684404.1:n.3724C>T
ENST00000684442.1:n.3681C>T
ENST00000684555.1:c.*1824C>T ENSP00000507705.1:n.*1824C>T
ENST00000684571.1:c.3453C>T ENSP00000506935.1:p.Ala1151=
ENST00000684593.1:c.*3317C>T ENSP00000507005.1:n.*3317C>T
ENST00000684711.1:c.*2008C>T ENSP00000506841.1:n.*2008C>T
XM_011520331.1:c.3612C>T XP_011518633.1:p.Ala1204=
XM_011520332.1:c.3615C>T XP_011518634.1:p.Ala1205=
XM_011520333.1:c.2112C>T XP_011518635.1:p.Ala704=
XM_017018197.2:c.3681C>T XP_016873686.1:p.Ala1227=
XM_017018199.1:c.3678C>T XP_016873688.1:p.Ala1226=
XM_017018201.2:c.3681C>T XP_016873690.1:p.Ala1227=
XM_017018202.1:c.2178C>T XP_016873691.1:p.Ala726=
XM_017018204.1:c.1569C>T XP_016873693.1:p.Ala523=
XM_024448668.1:c.1980C>T XP_024304436.1:p.Ala660=
XR_001747945.2:n.3753C>T
XR_001747946.2:n.3684C>T
XR_002957189.1:n.3833C>T
XR_930890.1:n.3678C>T
XR_930892.1:n.3578C>T
XR_930893.1:n.3575C>T