Canonical Allele Identifier: CA473299926

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426208T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404661T>G , CM000673.2:g.17404661T>G	GRCh38
NC_000011.9:g.17426208T>G , CM000673.1:g.17426208T>G	GRCh37
NC_000011.8:g.17382784T>G	NCBI36
NG_008867.1:g.77242A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2977A>C
ENST00000529967.6:n.1747A>C
ENST00000532220.2:n.1140A>C
ENST00000642611.2:n.3477A>C
ENST00000645004.2:n.907A>C
ENST00000682051.1:n.3424A>C
ENST00000682110.1:n.3477A>C
ENST00000682140.1:c.3405A>C	ENSP00000507829.1:p.Pro1135=
ENST00000682185.1:n.4713A>C
ENST00000682204.1:c.*1546A>C	ENSP00000507094.1:n.*1546A>C
ENST00000682215.1:n.3474A>C
ENST00000682288.1:c.*1839A>C	ENSP00000507506.1:n.*1839A>C
ENST00000682442.1:n.3697A>C
ENST00000682528.1:n.3554A>C
ENST00000682673.1:n.3421A>C
ENST00000682805.1:n.3474A>C
ENST00000682965.1:c.3396+833A>C	ENSP00000508229.1:n.3396+833A>C
ENST00000683093.1:n.3576A>C
ENST00000683136.1:c.3405A>C	ENSP00000507768.1:p.Pro1135=
ENST00000683153.1:n.3633A>C
ENST00000683365.1:n.3579A>C
ENST00000683377.1:n.3477A>C
ENST00000683456.1:c.*545A>C	ENSP00000508318.1:n.*545A>C
ENST00000683522.1:n.3477A>C
ENST00000683562.1:c.*1577A>C	ENSP00000508265.1:n.*1577A>C
ENST00000683693.1:n.3554A>C
ENST00000683725.1:c.3408A>C	ENSP00000507496.1:p.Pro1136=
ENST00000684010.1:n.3472A>C
ENST00000684157.1:n.3477A>C
ENST00000684253.1:n.3380A>C
ENST00000684288.1:c.*1580A>C	ENSP00000507143.1:n.*1580A>C
ENST00000684313.1:n.2909A>C
ENST00000684332.1:n.3550A>C
ENST00000684371.1:n.3583A>C
ENST00000684404.1:n.3520A>C
ENST00000684442.1:n.3477A>C
ENST00000684555.1:c.*1620A>C	ENSP00000507705.1:n.*1620A>C
ENST00000684571.1:c.3249A>C	ENSP00000506935.1:p.Pro1083=
ENST00000684593.1:c.*3113A>C	ENSP00000507005.1:n.*3113A>C
ENST00000684711.1:c.*1804A>C	ENSP00000506841.1:n.*1804A>C
ENST00000302539.9:c.3411A>C	ENSP00000303960.4:p.Pro1137=
ENST00000389817.8:c.3408A>C MANE Select	ENSP00000374467.4:p.Pro1136=
ENST00000642271.1:c.3405A>C	ENSP00000493749.1:p.Pro1135=
ENST00000642579.1:c.1492A>C
ENST00000642611.1:n.3362A>C
ENST00000642902.1:c.3190A>C
ENST00000643260.1:c.3408A>C	ENSP00000494450.1:p.Pro1136=
ENST00000643562.1:c.*1384A>C	ENSP00000496124.1:n.*1384A>C
ENST00000643925.1:c.1532A>C
ENST00000644447.1:c.1764A>C	ENSP00000496282.1:p.Pro588=
ENST00000644484.1:c.*1663A>C	ENSP00000493558.1:n.*1663A>C
ENST00000644675.1:c.*1580A>C	ENSP00000494567.1:n.*1580A>C
ENST00000644757.1:c.*1693A>C	ENSP00000495085.1:n.*1693A>C
ENST00000644772.1:c.3474A>C	ENSP00000494321.1:p.Pro1158=
ENST00000645004.1:n.547A>C
ENST00000645076.1:c.2607A>C
ENST00000645417.1:c.574A>C
ENST00000645744.1:c.*1672A>C	ENSP00000494564.1:n.*1672A>C
ENST00000645760.1:c.3683A>C
ENST00000645884.1:c.*545A>C	ENSP00000495516.1:n.*545A>C
ENST00000646003.1:c.*1364A>C	ENSP00000495259.1:n.*1364A>C
ENST00000646207.1:c.*1875A>C	ENSP00000495025.1:n.*1875A>C
ENST00000646276.1:c.*1681A>C	ENSP00000496070.1:n.*1681A>C
ENST00000646592.1:c.2714A>C
ENST00000646902.1:c.3405A>C	ENSP00000494101.1:p.Pro1135=
ENST00000646993.1:c.*1804A>C	ENSP00000493720.1:n.*1804A>C
ENST00000647013.1:c.3414A>C	ENSP00000496741.1:n.3414A>C
ENST00000647015.1:c.3159A>C	ENSP00000495389.1:p.Pro1053=
ENST00000647086.1:c.*3138A>C	ENSP00000493677.1:n.*3138A>C
ENST00000647158.1:c.*1549A>C	ENSP00000495744.1:n.*1549A>C
ENST00000302539.8:c.3411A>C	ENSP00000303960.4:p.Pro1137=
ENST00000389817.7:c.3408A>C	ENSP00000374467.3:p.Pro1136=
ENST00000524561.1:n.540A>C
ENST00000527905.5:c.*284A>C	ENSP00000431653.1:n.*284A>C
NM_000352.4:c.3408A>C	NP_000343.2:p.Pro1136=
NM_001287174.1:c.3411A>C	NP_001274103.1:p.Pro1137=
XM_011520331.1:c.3408A>C	XP_011518633.1:p.Pro1136=
XM_011520332.1:c.3411A>C	XP_011518634.1:p.Pro1137=
XM_011520333.1:c.1908A>C	XP_011518635.1:p.Pro636=
XR_930890.1:n.3474A>C
XR_930891.1:n.3475A>C
XR_930892.1:n.3374A>C
XR_930893.1:n.3371A>C
NM_001351295.1:c.3474A>C	NP_001338224.1:p.Pro1158=
NM_001351296.1:c.3408A>C	NP_001338225.1:p.Pro1136=
NM_001351297.1:c.3405A>C	NP_001338226.1:p.Pro1135=
NR_147094.1:n.3557A>C
XM_017018197.2:c.3477A>C	XP_016873686.1:p.Pro1159=
XM_017018199.1:c.3474A>C	XP_016873688.1:p.Pro1158=
XM_017018201.2:c.3477A>C	XP_016873690.1:p.Pro1159=
XM_017018202.1:c.1974A>C	XP_016873691.1:p.Pro658=
XM_017018204.1:c.1365A>C	XP_016873693.1:p.Pro455=
XM_024448668.1:c.1776A>C	XP_024304436.1:p.Pro592=
XR_001747945.2:n.3549A>C
XR_001747946.2:n.3480A>C
XR_002957189.1:n.3629A>C
NM_000352.6:c.3408A>C MANE Select	NP_000343.2:p.Pro1136=
NM_001287174.2:c.3411A>C	NP_001274103.1:p.Pro1137=
NM_001351295.2:c.3474A>C	NP_001338224.1:p.Pro1158=
NM_001351296.2:c.3408A>C	NP_001338225.1:p.Pro1136=
NM_001351297.2:c.3405A>C	NP_001338226.1:p.Pro1135=
NR_147094.2:n.3557A>C
NM_001287174.3:c.3411A>C	NP_001274103.1:p.Pro1137=