Canonical Allele Identifier: CA379797705

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426096A>G (hg19) ; chr11:g.17404549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404549A>G , CM000673.2:g.17404549A>G	GRCh38
NC_000011.9:g.17426096A>G , CM000673.1:g.17426096A>G	GRCh37
NC_000011.8:g.17382672A>G	NCBI36
NG_008867.1:g.77354T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3089T>C
ENST00000528374.2:c.99T>C
ENST00000529967.6:n.1859T>C
ENST00000532220.2:n.1252T>C
ENST00000642611.2:n.3589T>C
ENST00000645004.2:n.1019T>C
ENST00000682051.1:n.3536T>C
ENST00000682110.1:n.3589T>C
ENST00000682140.1:c.3517T>C	ENSP00000507829.1:p.Cys1173Arg
ENST00000682185.1:n.4825T>C
ENST00000682204.1:c.*1658T>C	ENSP00000507094.1:n.*1658T>C
ENST00000682215.1:n.3586T>C
ENST00000682288.1:c.*1951T>C	ENSP00000507506.1:n.*1951T>C
ENST00000682442.1:n.3809T>C
ENST00000682528.1:n.3666T>C
ENST00000682673.1:n.3533T>C
ENST00000682805.1:n.3586T>C
ENST00000682965.1:c.3396+945T>C	ENSP00000508229.1:n.3396+945T>C
ENST00000683093.1:n.3688T>C
ENST00000683136.1:c.3517T>C	ENSP00000507768.1:p.Cys1173Arg
ENST00000683153.1:n.3745T>C
ENST00000683365.1:n.3691T>C
ENST00000683377.1:n.3589T>C
ENST00000683456.1:c.*657T>C	ENSP00000508318.1:n.*657T>C
ENST00000683522.1:n.3589T>C
ENST00000683562.1:c.*1689T>C	ENSP00000508265.1:n.*1689T>C
ENST00000683693.1:n.3666T>C
ENST00000683725.1:c.3520T>C	ENSP00000507496.1:p.Cys1174Arg
ENST00000684010.1:n.3584T>C
ENST00000684157.1:n.3589T>C
ENST00000684253.1:n.3492T>C
ENST00000684288.1:c.*1692T>C	ENSP00000507143.1:n.*1692T>C
ENST00000684313.1:n.3021T>C
ENST00000684332.1:n.3662T>C
ENST00000684371.1:n.3695T>C
ENST00000684404.1:n.3632T>C
ENST00000684442.1:n.3589T>C
ENST00000684555.1:c.*1732T>C	ENSP00000507705.1:n.*1732T>C
ENST00000684571.1:c.3361T>C	ENSP00000506935.1:p.Cys1121Arg
ENST00000684593.1:c.*3225T>C	ENSP00000507005.1:n.*3225T>C
ENST00000684711.1:c.*1916T>C	ENSP00000506841.1:n.*1916T>C
ENST00000302539.9:c.3523T>C	ENSP00000303960.4:p.Cys1175Arg
ENST00000389817.8:c.3520T>C MANE Select	ENSP00000374467.4:p.Cys1174Arg
ENST00000642271.1:c.3517T>C	ENSP00000493749.1:p.Cys1173Arg
ENST00000642579.1:c.1604T>C
ENST00000642611.1:n.3474T>C
ENST00000642902.1:c.3302T>C
ENST00000643260.1:c.3520T>C	ENSP00000494450.1:p.Cys1174Arg
ENST00000643562.1:c.*1496T>C	ENSP00000496124.1:n.*1496T>C
ENST00000643925.1:c.1644T>C
ENST00000644447.1:c.1876T>C	ENSP00000496282.1:p.Cys626Arg
ENST00000644484.1:c.*1775T>C	ENSP00000493558.1:n.*1775T>C
ENST00000644675.1:c.*1692T>C	ENSP00000494567.1:n.*1692T>C
ENST00000644757.1:c.*1805T>C	ENSP00000495085.1:n.*1805T>C
ENST00000644772.1:c.3586T>C	ENSP00000494321.1:p.Cys1196Arg
ENST00000645004.1:n.659T>C
ENST00000645076.1:c.2719T>C
ENST00000645417.1:c.686T>C
ENST00000645744.1:c.*1784T>C	ENSP00000494564.1:n.*1784T>C
ENST00000645760.1:c.3795T>C
ENST00000645884.1:c.*657T>C	ENSP00000495516.1:n.*657T>C
ENST00000646003.1:c.*1476T>C	ENSP00000495259.1:n.*1476T>C
ENST00000646207.1:c.*1987T>C	ENSP00000495025.1:n.*1987T>C
ENST00000646276.1:c.*1793T>C	ENSP00000496070.1:n.*1793T>C
ENST00000646592.1:c.2826T>C
ENST00000646902.1:c.3517T>C	ENSP00000494101.1:p.Cys1173Arg
ENST00000646993.1:c.*1916T>C	ENSP00000493720.1:n.*1916T>C
ENST00000647013.1:c.3526T>C	ENSP00000496741.1:n.3526T>C
ENST00000647015.1:c.3271T>C	ENSP00000495389.1:p.Cys1091Arg
ENST00000647086.1:c.*3250T>C	ENSP00000493677.1:n.*3250T>C
ENST00000647158.1:c.*1661T>C	ENSP00000495744.1:n.*1661T>C
ENST00000302539.8:c.3523T>C	ENSP00000303960.4:p.Cys1175Arg
ENST00000389817.7:c.3520T>C	ENSP00000374467.3:p.Cys1174Arg
ENST00000524561.1:n.652T>C
ENST00000527905.5:c.*396T>C	ENSP00000431653.1:n.*396T>C
ENST00000531137.1:n.13T>C
NM_000352.4:c.3520T>C	NP_000343.2:p.Cys1174Arg
NM_001287174.1:c.3523T>C	NP_001274103.1:p.Cys1175Arg
XM_011520331.1:c.3520T>C	XP_011518633.1:p.Cys1174Arg
XM_011520332.1:c.3523T>C	XP_011518634.1:p.Cys1175Arg
XM_011520333.1:c.2020T>C	XP_011518635.1:p.Cys674Arg
XR_930890.1:n.3586T>C
XR_930892.1:n.3486T>C
XR_930893.1:n.3483T>C
NM_001351295.1:c.3586T>C	NP_001338224.1:p.Cys1196Arg
NM_001351296.1:c.3520T>C	NP_001338225.1:p.Cys1174Arg
NM_001351297.1:c.3517T>C	NP_001338226.1:p.Cys1173Arg
NR_147094.1:n.3669T>C
XM_017018197.2:c.3589T>C	XP_016873686.1:p.Cys1197Arg
XM_017018199.1:c.3586T>C	XP_016873688.1:p.Cys1196Arg
XM_017018201.2:c.3589T>C	XP_016873690.1:p.Cys1197Arg
XM_017018202.1:c.2086T>C	XP_016873691.1:p.Cys696Arg
XM_017018204.1:c.1477T>C	XP_016873693.1:p.Cys493Arg
XM_024448668.1:c.1888T>C	XP_024304436.1:p.Cys630Arg
XR_001747945.2:n.3661T>C
XR_001747946.2:n.3592T>C
XR_002957189.1:n.3741T>C
NM_000352.6:c.3520T>C MANE Select	NP_000343.2:p.Cys1174Arg
NM_001287174.2:c.3523T>C	NP_001274103.1:p.Cys1175Arg
NM_001351295.2:c.3586T>C	NP_001338224.1:p.Cys1196Arg
NM_001351296.2:c.3520T>C	NP_001338225.1:p.Cys1174Arg
NM_001351297.2:c.3517T>C	NP_001338226.1:p.Cys1173Arg
NR_147094.2:n.3669T>C
NM_001287174.3:c.3523T>C	NP_001274103.1:p.Cys1175Arg