Canonical Allele Identifier: CA473298265
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17417246G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395699G>C , CM000673.2:g.17395699G>C GRCh38
NC_000011.9:g.17417246G>C , CM000673.1:g.17417246G>C GRCh37
NC_000011.8:g.17373822G>C NCBI36
NG_008867.1:g.86204C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3819C>G
ENST00000528374.2:c.809C>G
ENST00000529967.6:n.2557C>G
ENST00000532220.2:n.3451C>G
ENST00000642611.2:n.5551C>G
ENST00000644057.2:n.794C>G
ENST00000645004.2:n.1717C>G
ENST00000682051.1:n.4380C>G
ENST00000682110.1:n.4433C>G
ENST00000682140.1:c.*4C>G ENSP00000507829.1:n.*4C>G
ENST00000682185.1:n.5523C>G
ENST00000682204.1:c.*2356C>G ENSP00000507094.1:n.*2356C>G
ENST00000682215.1:n.4800C>G
ENST00000682288.1:c.*2649C>G ENSP00000507506.1:n.*2649C>G
ENST00000682442.1:n.4653C>G
ENST00000682528.1:n.4510C>G
ENST00000682673.1:n.4377C>G
ENST00000682805.1:n.4838C>G
ENST00000682965.1:c.*640C>G ENSP00000508229.1:n.*640C>G
ENST00000683093.1:n.5517C>G
ENST00000683136.1:c.4101C>G ENSP00000507768.1:p.Gly1367=
ENST00000683153.1:n.4475C>G
ENST00000683365.1:n.4535C>G
ENST00000683377.1:n.4433C>G
ENST00000683456.1:c.*1355C>G ENSP00000508318.1:n.*1355C>G
ENST00000683522.1:n.4433C>G
ENST00000683562.1:c.*2387C>G ENSP00000508265.1:n.*2387C>G
ENST00000683693.1:n.5998C>G
ENST00000683725.1:c.4218C>G ENSP00000507496.1:p.Gly1406=
ENST00000684010.1:n.4428C>G
ENST00000684157.1:n.5418C>G
ENST00000684253.1:n.4336C>G
ENST00000684288.1:c.*2390C>G ENSP00000507143.1:n.*2390C>G
ENST00000684313.1:n.3865C>G
ENST00000684332.1:n.4506C>G
ENST00000684371.1:n.4539C>G
ENST00000684404.1:n.5461C>G
ENST00000684442.1:n.4657C>G
ENST00000684555.1:c.*2430C>G ENSP00000507705.1:n.*2430C>G
ENST00000684571.1:c.4059C>G ENSP00000506935.1:p.Gly1353=
ENST00000684593.1:c.*3923C>G ENSP00000507005.1:n.*3923C>G
ENST00000684711.1:c.*2614C>G ENSP00000506841.1:n.*2614C>G
ENST00000302539.9:c.4221C>G ENSP00000303960.4:p.Gly1407=
ENST00000389817.8:c.4218C>G MANE Select ENSP00000374467.4:p.Gly1406=
ENST00000642271.1:c.4215C>G ENSP00000493749.1:p.Gly1405=
ENST00000642579.1:c.2272C>G
ENST00000642611.1:n.5436C>G
ENST00000642902.1:c.4000C>G
ENST00000643260.1:c.4218C>G ENSP00000494450.1:p.Gly1406=
ENST00000643562.1:c.*2340C>G ENSP00000496124.1:n.*2340C>G
ENST00000643925.1:c.2858C>G
ENST00000644057.1:n.295C>G
ENST00000644484.1:c.*3604C>G ENSP00000493558.1:n.*3604C>G
ENST00000644675.1:c.*2390C>G ENSP00000494567.1:n.*2390C>G
ENST00000644757.1:c.*3202+565C>G ENSP00000495085.1:n.*3202+565C>G
ENST00000644772.1:c.4284C>G ENSP00000494321.1:p.Gly1428=
ENST00000645004.1:n.1911C>G
ENST00000645076.1:c.3417C>G
ENST00000645417.1:c.1406C>G
ENST00000645744.1:c.*3964-61C>G ENSP00000494564.1:n.*3964-61C>G
ENST00000645760.1:c.4639C>G
ENST00000645884.1:c.*1501C>G ENSP00000495516.1:n.*1501C>G
ENST00000646003.1:c.*2301-61C>G ENSP00000495259.1:n.*2301-61C>G
ENST00000646207.1:c.*3055C>G ENSP00000495025.1:n.*3055C>G
ENST00000646276.1:c.*3622C>G ENSP00000496070.1:n.*3622C>G
ENST00000646592.1:c.3524C>G
ENST00000646902.1:c.4185C>G ENSP00000494101.1:p.Gly1395=
ENST00000646993.1:c.*2760C>G ENSP00000493720.1:n.*2760C>G
ENST00000647013.1:c.4224C>G ENSP00000496741.1:n.4224C>G
ENST00000647015.1:c.3969C>G ENSP00000495389.1:p.Gly1323=
ENST00000647086.1:c.*3804C>G ENSP00000493677.1:n.*3804C>G
ENST00000647158.1:c.*2505C>G ENSP00000495744.1:n.*2505C>G
ENST00000302539.8:c.4221C>G ENSP00000303960.4:p.Gly1407=
ENST00000389817.7:c.4218C>G ENSP00000374467.3:p.Gly1406=
ENST00000525022.1:n.217C>G
ENST00000526037.5:n.82C>G
ENST00000526168.5:c.67-61C>G
ENST00000531642.5:c.54C>G
NM_000352.4:c.4218C>G NP_000343.2:p.Gly1406=
NM_001287174.1:c.4221C>G NP_001274103.1:p.Gly1407=
XM_011520331.1:c.4218C>G XP_011518633.1:p.Gly1406=
XM_011520332.1:c.4221C>G XP_011518634.1:p.Gly1407=
XM_011520333.1:c.2718C>G XP_011518635.1:p.Gly906=
XR_930890.1:n.4284C>G
NM_001351295.1:c.4284C>G NP_001338224.1:p.Gly1428=
NM_001351296.1:c.4218C>G NP_001338225.1:p.Gly1406=
NM_001351297.1:c.4215C>G NP_001338226.1:p.Gly1405=
NR_147094.1:n.4513C>G
XM_017018197.2:c.4287C>G XP_016873686.1:p.Gly1429=
XM_017018199.1:c.4284C>G XP_016873688.1:p.Gly1428=
XM_017018201.2:c.4287C>G XP_016873690.1:p.Gly1429=
XM_017018202.1:c.2784C>G XP_016873691.1:p.Gly928=
XM_017018204.1:c.2175C>G XP_016873693.1:p.Gly725=
XM_024448668.1:c.2586C>G XP_024304436.1:p.Gly862=
XR_001747945.2:n.4359C>G
XR_001747946.2:n.4290C>G
XR_002957189.1:n.6073C>G
NM_000352.6:c.4218C>G MANE Select NP_000343.2:p.Gly1406=
NM_001287174.2:c.4221C>G NP_001274103.1:p.Gly1407=
NM_001351295.2:c.4284C>G NP_001338224.1:p.Gly1428=
NM_001351296.2:c.4218C>G NP_001338225.1:p.Gly1406=
NM_001351297.2:c.4215C>G NP_001338226.1:p.Gly1405=
NR_147094.2:n.4513C>G
NM_001287174.3:c.4221C>G NP_001274103.1:p.Gly1407=