Canonical Allele Identifier: CA473298572

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17397038-G-A
• MyVariant Identifiers: chr11:g.17418585G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397038G>A , CM000673.2:g.17397038G>A	GRCh38
NC_000011.9:g.17418585G>A , CM000673.1:g.17418585G>A	GRCh37
NC_000011.8:g.17375161G>A	NCBI36
NG_008867.1:g.84865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3598C>T
ENST00000528374.2:c.588C>T
ENST00000529967.6:n.2336C>T
ENST00000532220.2:n.2245C>T
ENST00000642611.2:n.4212C>T
ENST00000644057.2:n.440C>T
ENST00000645004.2:n.1496C>T
ENST00000682051.1:n.4159C>T
ENST00000682110.1:n.4212C>T
ENST00000682140.1:c.3985+155C>T	ENSP00000507829.1:n.3985+155C>T
ENST00000682185.1:n.5302C>T
ENST00000682204.1:c.*2135C>T	ENSP00000507094.1:n.*2135C>T
ENST00000682215.1:n.4579C>T
ENST00000682288.1:c.*2428C>T	ENSP00000507506.1:n.*2428C>T
ENST00000682442.1:n.4432C>T
ENST00000682528.1:n.4289C>T
ENST00000682673.1:n.4156C>T
ENST00000682805.1:n.4579C>T
ENST00000682965.1:c.*419C>T	ENSP00000508229.1:n.*419C>T
ENST00000683093.1:n.4311C>T
ENST00000683136.1:c.3880C>T	ENSP00000507768.1:p.Leu1294=
ENST00000683153.1:n.4254C>T
ENST00000683365.1:n.4314C>T
ENST00000683377.1:n.4212C>T
ENST00000683456.1:c.*1134C>T	ENSP00000508318.1:n.*1134C>T
ENST00000683522.1:n.4212C>T
ENST00000683562.1:c.*2166C>T	ENSP00000508265.1:n.*2166C>T
ENST00000683693.1:n.4659C>T
ENST00000683725.1:c.3997C>T	ENSP00000507496.1:p.Leu1333=
ENST00000684010.1:n.4207C>T
ENST00000684157.1:n.4212C>T
ENST00000684253.1:n.4115C>T
ENST00000684288.1:c.*2169C>T	ENSP00000507143.1:n.*2169C>T
ENST00000684313.1:n.3644C>T
ENST00000684332.1:n.4285C>T
ENST00000684371.1:n.4318C>T
ENST00000684404.1:n.4255C>T
ENST00000684442.1:n.4436C>T
ENST00000684555.1:c.*2209C>T	ENSP00000507705.1:n.*2209C>T
ENST00000684571.1:c.3838C>T	ENSP00000506935.1:p.Leu1280=
ENST00000684593.1:c.*3702C>T	ENSP00000507005.1:n.*3702C>T
ENST00000684711.1:c.*2393C>T	ENSP00000506841.1:n.*2393C>T
ENST00000302539.9:c.4000C>T	ENSP00000303960.4:p.Leu1334=
ENST00000389817.8:c.3997C>T MANE Select	ENSP00000374467.4:p.Leu1333=
ENST00000642271.1:c.3994C>T	ENSP00000493749.1:p.Leu1332=
ENST00000642579.1:c.2073-22C>T
ENST00000642611.1:n.4097C>T
ENST00000642902.1:c.3779C>T
ENST00000643260.1:c.3997C>T	ENSP00000494450.1:p.Leu1333=
ENST00000643562.1:c.*2119C>T	ENSP00000496124.1:n.*2119C>T
ENST00000643925.1:c.2637C>T
ENST00000644057.1:n.74C>T
ENST00000644484.1:c.*2398C>T	ENSP00000493558.1:n.*2398C>T
ENST00000644675.1:c.*2169C>T	ENSP00000494567.1:n.*2169C>T
ENST00000644757.1:c.*2428C>T	ENSP00000495085.1:n.*2428C>T
ENST00000644772.1:c.4063C>T	ENSP00000494321.1:p.Leu1355=
ENST00000645004.1:n.1652C>T
ENST00000645076.1:c.3196C>T
ENST00000645417.1:c.1185C>T
ENST00000645744.1:c.*2777C>T	ENSP00000494564.1:n.*2777C>T
ENST00000645760.1:c.4418C>T
ENST00000645884.1:c.*1280C>T	ENSP00000495516.1:n.*1280C>T
ENST00000646003.1:c.*2099C>T	ENSP00000495259.1:n.*2099C>T
ENST00000646207.1:c.*2834C>T	ENSP00000495025.1:n.*2834C>T
ENST00000646276.1:c.*2416C>T	ENSP00000496070.1:n.*2416C>T
ENST00000646592.1:c.3303C>T
ENST00000646902.1:c.3986-22C>T	ENSP00000494101.1:n.3986-22C>T
ENST00000646993.1:c.*2539C>T	ENSP00000493720.1:n.*2539C>T
ENST00000647013.1:c.4003C>T	ENSP00000496741.1:n.4003C>T
ENST00000647015.1:c.3748C>T	ENSP00000495389.1:p.Leu1250=
ENST00000647086.1:c.*3605-22C>T	ENSP00000493677.1:n.*3605-22C>T
ENST00000647158.1:c.*2284C>T	ENSP00000495744.1:n.*2284C>T
ENST00000302539.8:c.4000C>T	ENSP00000303960.4:p.Leu1334=
ENST00000389817.7:c.3997C>T	ENSP00000374467.3:p.Leu1333=
ENST00000527905.5:c.*1019C>T	ENSP00000431653.1:n.*1019C>T
ENST00000528374.1:c.479C>T
ENST00000531137.1:n.562C>T
ENST00000531891.1:c.357-22C>T
ENST00000532220.1:n.471C>T
NM_000352.4:c.3997C>T	NP_000343.2:p.Leu1333=
NM_001287174.1:c.4000C>T	NP_001274103.1:p.Leu1334=
XM_011520331.1:c.3997C>T	XP_011518633.1:p.Leu1333=
XM_011520332.1:c.4000C>T	XP_011518634.1:p.Leu1334=
XM_011520333.1:c.2497C>T	XP_011518635.1:p.Leu833=
XR_930890.1:n.4063C>T
NM_001351295.1:c.4063C>T	NP_001338224.1:p.Leu1355=
NM_001351296.1:c.3997C>T	NP_001338225.1:p.Leu1333=
NM_001351297.1:c.3994C>T	NP_001338226.1:p.Leu1332=
NR_147094.1:n.4292C>T
XM_017018197.2:c.4066C>T	XP_016873686.1:p.Leu1356=
XM_017018199.1:c.4063C>T	XP_016873688.1:p.Leu1355=
XM_017018201.2:c.4066C>T	XP_016873690.1:p.Leu1356=
XM_017018202.1:c.2563C>T	XP_016873691.1:p.Leu855=
XM_017018204.1:c.1954C>T	XP_016873693.1:p.Leu652=
XM_024448668.1:c.2365C>T	XP_024304436.1:p.Leu789=
XR_001747945.2:n.4138C>T
XR_001747946.2:n.4069C>T
XR_002957189.1:n.4734C>T
NM_000352.6:c.3997C>T MANE Select	NP_000343.2:p.Leu1333=
NM_001287174.2:c.4000C>T	NP_001274103.1:p.Leu1334=
NM_001351295.2:c.4063C>T	NP_001338224.1:p.Leu1355=
NM_001351296.2:c.3997C>T	NP_001338225.1:p.Leu1333=
NM_001351297.2:c.3994C>T	NP_001338226.1:p.Leu1332=
NR_147094.2:n.4292C>T
NM_001287174.3:c.4000C>T	NP_001274103.1:p.Leu1334=