Canonical Allele Identifier: CA379796687

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17402718G>A , CM000673.2:g.17402718G>A	GRCh38
NC_000011.9:g.17424265G>A , CM000673.1:g.17424265G>A	GRCh37
NC_000011.8:g.17380841G>A	NCBI36
NG_008867.1:g.79185C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3593C>T MANE Select	NP_000343.2:p.Pro1198Leu
ENST00000389817.8:c.3593C>T MANE Select	ENSP00000374467.4:p.Pro1198Leu
NM_000352.4:c.3593C>T	NP_000343.2:p.Pro1198Leu
NM_001287174.1:c.3596C>T	NP_001274103.1:p.Pro1199Leu
NM_001287174.2:c.3596C>T	NP_001274103.1:p.Pro1199Leu
NM_001287174.3:c.3596C>T	NP_001274103.1:p.Pro1199Leu
NM_001351295.1:c.3659C>T	NP_001338224.1:p.Pro1220Leu
NM_001351295.2:c.3659C>T	NP_001338224.1:p.Pro1220Leu
NM_001351296.1:c.3593C>T	NP_001338225.1:p.Pro1198Leu
NM_001351296.2:c.3593C>T	NP_001338225.1:p.Pro1198Leu
NM_001351297.1:c.3590C>T	NP_001338226.1:p.Pro1197Leu
NM_001351297.2:c.3590C>T	NP_001338226.1:p.Pro1197Leu
NR_147094.1:n.3742C>T
NR_147094.2:n.3742C>T
ENST00000302539.8:c.3596C>T	ENSP00000303960.4:p.Pro1199Leu
ENST00000302539.9:c.3596C>T	ENSP00000303960.4:p.Pro1199Leu
ENST00000389817.7:c.3593C>T	ENSP00000374467.3:p.Pro1198Leu
ENST00000524561.2:n.3162C>T
ENST00000527905.5:c.*469C>T	ENSP00000431653.1:n.*469C>T
ENST00000528374.1:c.63C>T
ENST00000528374.2:c.172C>T
ENST00000529967.6:n.1932C>T
ENST00000531137.1:n.86C>T
ENST00000532220.2:n.1325C>T
ENST00000642271.1:c.3590C>T	ENSP00000493749.1:p.Pro1197Leu
ENST00000642579.1:c.1677C>T
ENST00000642611.1:n.3547C>T
ENST00000642611.2:n.3662C>T
ENST00000642902.1:c.3375C>T
ENST00000643260.1:c.3593C>T	ENSP00000494450.1:p.Pro1198Leu
ENST00000643562.1:c.*1569C>T	ENSP00000496124.1:n.*1569C>T
ENST00000643925.1:c.1717C>T
ENST00000644057.2:n.36C>T
ENST00000644447.1:c.1949C>T	ENSP00000496282.1:p.Pro650Leu
ENST00000644484.1:c.*1848C>T	ENSP00000493558.1:n.*1848C>T
ENST00000644675.1:c.*1765C>T	ENSP00000494567.1:n.*1765C>T
ENST00000644757.1:c.*1878C>T	ENSP00000495085.1:n.*1878C>T
ENST00000644772.1:c.3659C>T	ENSP00000494321.1:p.Pro1220Leu
ENST00000645004.1:n.732C>T
ENST00000645004.2:n.1092C>T
ENST00000645076.1:c.2792C>T
ENST00000645417.1:c.759C>T
ENST00000645744.1:c.*1857C>T	ENSP00000494564.1:n.*1857C>T
ENST00000645760.1:c.3868C>T
ENST00000645884.1:c.*730C>T	ENSP00000495516.1:n.*730C>T
ENST00000646003.1:c.*1549C>T	ENSP00000495259.1:n.*1549C>T
ENST00000646207.1:c.*2060C>T	ENSP00000495025.1:n.*2060C>T
ENST00000646276.1:c.*1866C>T	ENSP00000496070.1:n.*1866C>T
ENST00000646592.1:c.2899C>T
ENST00000646902.1:c.3590C>T	ENSP00000494101.1:p.Pro1197Leu
ENST00000646993.1:c.*1989C>T	ENSP00000493720.1:n.*1989C>T
ENST00000647013.1:c.3599C>T	ENSP00000496741.1:n.3599C>T
ENST00000647015.1:c.3344C>T	ENSP00000495389.1:p.Pro1115Leu
ENST00000647086.1:c.*3323C>T	ENSP00000493677.1:n.*3323C>T
ENST00000647158.1:c.*1734C>T	ENSP00000495744.1:n.*1734C>T
ENST00000682051.1:n.3609C>T
ENST00000682110.1:n.3662C>T
ENST00000682140.1:c.3590C>T	ENSP00000507829.1:p.Pro1197Leu
ENST00000682185.1:n.4898C>T
ENST00000682204.1:c.*1731C>T	ENSP00000507094.1:n.*1731C>T
ENST00000682215.1:n.3659C>T
ENST00000682288.1:c.*2024C>T	ENSP00000507506.1:n.*2024C>T
ENST00000682442.1:n.3882C>T
ENST00000682528.1:n.3739C>T
ENST00000682673.1:n.3606C>T
ENST00000682805.1:n.3659C>T
ENST00000682965.1:c.*15C>T	ENSP00000508229.1:n.*15C>T
ENST00000683093.1:n.3761C>T
ENST00000683136.1:c.3590C>T	ENSP00000507768.1:p.Pro1197Leu
ENST00000683153.1:n.3818C>T
ENST00000683365.1:n.3764C>T
ENST00000683377.1:n.3662C>T
ENST00000683456.1:c.*730C>T	ENSP00000508318.1:n.*730C>T
ENST00000683522.1:n.3662C>T
ENST00000683562.1:c.*1762C>T	ENSP00000508265.1:n.*1762C>T
ENST00000683693.1:n.3739C>T
ENST00000683725.1:c.3593C>T	ENSP00000507496.1:p.Pro1198Leu
ENST00000684010.1:n.3657C>T
ENST00000684157.1:n.3662C>T
ENST00000684253.1:n.3565C>T
ENST00000684288.1:c.*1765C>T	ENSP00000507143.1:n.*1765C>T
ENST00000684313.1:n.3094C>T
ENST00000684332.1:n.3735C>T
ENST00000684371.1:n.3768C>T
ENST00000684404.1:n.3705C>T
ENST00000684442.1:n.3662C>T
ENST00000684555.1:c.*1805C>T	ENSP00000507705.1:n.*1805C>T
ENST00000684571.1:c.3434C>T	ENSP00000506935.1:p.Pro1145Leu
ENST00000684593.1:c.*3298C>T	ENSP00000507005.1:n.*3298C>T
ENST00000684711.1:c.*1989C>T	ENSP00000506841.1:n.*1989C>T
XM_011520331.1:c.3593C>T	XP_011518633.1:p.Pro1198Leu
XM_011520332.1:c.3596C>T	XP_011518634.1:p.Pro1199Leu
XM_011520333.1:c.2093C>T	XP_011518635.1:p.Pro698Leu
XM_017018197.2:c.3662C>T	XP_016873686.1:p.Pro1221Leu
XM_017018199.1:c.3659C>T	XP_016873688.1:p.Pro1220Leu
XM_017018201.2:c.3662C>T	XP_016873690.1:p.Pro1221Leu
XM_017018202.1:c.2159C>T	XP_016873691.1:p.Pro720Leu
XM_017018204.1:c.1550C>T	XP_016873693.1:p.Pro517Leu
XM_024448668.1:c.1961C>T	XP_024304436.1:p.Pro654Leu
XR_001747945.2:n.3734C>T
XR_001747946.2:n.3665C>T
XR_002957189.1:n.3814C>T
XR_930890.1:n.3659C>T
XR_930892.1:n.3559C>T
XR_930893.1:n.3556C>T