Canonical Allele Identifier: CA473298566

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418577T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397030T>G , CM000673.2:g.17397030T>G	GRCh38
NC_000011.9:g.17418577T>G , CM000673.1:g.17418577T>G	GRCh37
NC_000011.8:g.17375153T>G	NCBI36
NG_008867.1:g.84873A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3606A>C
ENST00000528374.2:c.596A>C
ENST00000529967.6:n.2344A>C
ENST00000532220.2:n.2253A>C
ENST00000642611.2:n.4220A>C
ENST00000644057.2:n.448A>C
ENST00000645004.2:n.1504A>C
ENST00000682051.1:n.4167A>C
ENST00000682110.1:n.4220A>C
ENST00000682140.1:c.3985+163A>C	ENSP00000507829.1:n.3985+163A>C
ENST00000682185.1:n.5310A>C
ENST00000682204.1:c.*2143A>C	ENSP00000507094.1:n.*2143A>C
ENST00000682215.1:n.4587A>C
ENST00000682288.1:c.*2436A>C	ENSP00000507506.1:n.*2436A>C
ENST00000682442.1:n.4440A>C
ENST00000682528.1:n.4297A>C
ENST00000682673.1:n.4164A>C
ENST00000682805.1:n.4587A>C
ENST00000682965.1:c.*427A>C	ENSP00000508229.1:n.*427A>C
ENST00000683093.1:n.4319A>C
ENST00000683136.1:c.3888A>C	ENSP00000507768.1:p.Pro1296=
ENST00000683153.1:n.4262A>C
ENST00000683365.1:n.4322A>C
ENST00000683377.1:n.4220A>C
ENST00000683456.1:c.*1142A>C	ENSP00000508318.1:n.*1142A>C
ENST00000683522.1:n.4220A>C
ENST00000683562.1:c.*2174A>C	ENSP00000508265.1:n.*2174A>C
ENST00000683693.1:n.4667A>C
ENST00000683725.1:c.4005A>C	ENSP00000507496.1:p.Pro1335=
ENST00000684010.1:n.4215A>C
ENST00000684157.1:n.4220A>C
ENST00000684253.1:n.4123A>C
ENST00000684288.1:c.*2177A>C	ENSP00000507143.1:n.*2177A>C
ENST00000684313.1:n.3652A>C
ENST00000684332.1:n.4293A>C
ENST00000684371.1:n.4326A>C
ENST00000684404.1:n.4263A>C
ENST00000684442.1:n.4444A>C
ENST00000684555.1:c.*2217A>C	ENSP00000507705.1:n.*2217A>C
ENST00000684571.1:c.3846A>C	ENSP00000506935.1:p.Pro1282=
ENST00000684593.1:c.*3710A>C	ENSP00000507005.1:n.*3710A>C
ENST00000684711.1:c.*2401A>C	ENSP00000506841.1:n.*2401A>C
ENST00000302539.9:c.4008A>C	ENSP00000303960.4:p.Pro1336=
ENST00000389817.8:c.4005A>C MANE Select	ENSP00000374467.4:p.Pro1335=
ENST00000642271.1:c.4002A>C	ENSP00000493749.1:p.Pro1334=
ENST00000642579.1:c.2073-14A>C
ENST00000642611.1:n.4105A>C
ENST00000642902.1:c.3787A>C
ENST00000643260.1:c.4005A>C	ENSP00000494450.1:p.Pro1335=
ENST00000643562.1:c.*2127A>C	ENSP00000496124.1:n.*2127A>C
ENST00000643925.1:c.2645A>C
ENST00000644057.1:n.82A>C
ENST00000644484.1:c.*2406A>C	ENSP00000493558.1:n.*2406A>C
ENST00000644675.1:c.*2177A>C	ENSP00000494567.1:n.*2177A>C
ENST00000644757.1:c.*2436A>C	ENSP00000495085.1:n.*2436A>C
ENST00000644772.1:c.4071A>C	ENSP00000494321.1:p.Pro1357=
ENST00000645004.1:n.1660A>C
ENST00000645076.1:c.3204A>C
ENST00000645417.1:c.1193A>C
ENST00000645744.1:c.*2785A>C	ENSP00000494564.1:n.*2785A>C
ENST00000645760.1:c.4426A>C
ENST00000645884.1:c.*1288A>C	ENSP00000495516.1:n.*1288A>C
ENST00000646003.1:c.*2107A>C	ENSP00000495259.1:n.*2107A>C
ENST00000646207.1:c.*2842A>C	ENSP00000495025.1:n.*2842A>C
ENST00000646276.1:c.*2424A>C	ENSP00000496070.1:n.*2424A>C
ENST00000646592.1:c.3311A>C
ENST00000646902.1:c.3986-14A>C	ENSP00000494101.1:n.3986-14A>C
ENST00000646993.1:c.*2547A>C	ENSP00000493720.1:n.*2547A>C
ENST00000647013.1:c.4011A>C	ENSP00000496741.1:n.4011A>C
ENST00000647015.1:c.3756A>C	ENSP00000495389.1:p.Pro1252=
ENST00000647086.1:c.*3605-14A>C	ENSP00000493677.1:n.*3605-14A>C
ENST00000647158.1:c.*2292A>C	ENSP00000495744.1:n.*2292A>C
ENST00000302539.8:c.4008A>C	ENSP00000303960.4:p.Pro1336=
ENST00000389817.7:c.4005A>C	ENSP00000374467.3:p.Pro1335=
ENST00000527905.5:c.*1027A>C	ENSP00000431653.1:n.*1027A>C
ENST00000528374.1:c.487A>C
ENST00000531137.1:n.570A>C
ENST00000531891.1:c.357-14A>C
ENST00000532220.1:n.479A>C
NM_000352.4:c.4005A>C	NP_000343.2:p.Pro1335=
NM_001287174.1:c.4008A>C	NP_001274103.1:p.Pro1336=
XM_011520331.1:c.4005A>C	XP_011518633.1:p.Pro1335=
XM_011520332.1:c.4008A>C	XP_011518634.1:p.Pro1336=
XM_011520333.1:c.2505A>C	XP_011518635.1:p.Pro835=
XR_930890.1:n.4071A>C
NM_001351295.1:c.4071A>C	NP_001338224.1:p.Pro1357=
NM_001351296.1:c.4005A>C	NP_001338225.1:p.Pro1335=
NM_001351297.1:c.4002A>C	NP_001338226.1:p.Pro1334=
NR_147094.1:n.4300A>C
XM_017018197.2:c.4074A>C	XP_016873686.1:p.Pro1358=
XM_017018199.1:c.4071A>C	XP_016873688.1:p.Pro1357=
XM_017018201.2:c.4074A>C	XP_016873690.1:p.Pro1358=
XM_017018202.1:c.2571A>C	XP_016873691.1:p.Pro857=
XM_017018204.1:c.1962A>C	XP_016873693.1:p.Pro654=
XM_024448668.1:c.2373A>C	XP_024304436.1:p.Pro791=
XR_001747945.2:n.4146A>C
XR_001747946.2:n.4077A>C
XR_002957189.1:n.4742A>C
NM_000352.6:c.4005A>C MANE Select	NP_000343.2:p.Pro1335=
NM_001287174.2:c.4008A>C	NP_001274103.1:p.Pro1336=
NM_001351295.2:c.4071A>C	NP_001338224.1:p.Pro1357=
NM_001351296.2:c.4005A>C	NP_001338225.1:p.Pro1335=
NM_001351297.2:c.4002A>C	NP_001338226.1:p.Pro1334=
NR_147094.2:n.4300A>C
NM_001287174.3:c.4008A>C	NP_001274103.1:p.Pro1336=