Canonical Allele Identifier: CA379783476

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415908C>G (hg19) ; chr11:g.17394361C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394361C>G , CM000673.2:g.17394361C>G	GRCh38
NC_000011.9:g.17415908C>G , CM000673.1:g.17415908C>G	GRCh37
NC_000011.8:g.17372484C>G	NCBI36
NG_008867.1:g.87542G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4051G>C
ENST00000526037.6:n.385G>C
ENST00000528374.2:c.1041G>C
ENST00000529967.6:n.2789G>C
ENST00000532220.2:n.3683G>C
ENST00000642611.2:n.5783G>C
ENST00000644057.2:n.1026G>C
ENST00000645004.2:n.1949G>C
ENST00000682051.1:n.4612G>C
ENST00000682110.1:n.4665G>C
ENST00000682140.1:c.*236G>C	ENSP00000507829.1:n.*236G>C
ENST00000682185.1:n.5755G>C
ENST00000682204.1:c.*2588G>C	ENSP00000507094.1:n.*2588G>C
ENST00000682215.1:n.5032G>C
ENST00000682288.1:c.*2881G>C	ENSP00000507506.1:n.*2881G>C
ENST00000682442.1:n.4885G>C
ENST00000682528.1:n.4742G>C
ENST00000682673.1:n.4609G>C
ENST00000682805.1:n.5070G>C
ENST00000682965.1:c.*872G>C	ENSP00000508229.1:n.*872G>C
ENST00000683093.1:n.5645G>C
ENST00000683136.1:c.4333G>C	ENSP00000507768.1:p.Gly1445Arg
ENST00000683153.1:n.4707G>C
ENST00000683365.1:n.4767G>C
ENST00000683377.1:n.4561G>C
ENST00000683456.1:c.*1587G>C	ENSP00000508318.1:n.*1587G>C
ENST00000683522.1:n.4747G>C
ENST00000683562.1:c.*2515G>C	ENSP00000508265.1:n.*2515G>C
ENST00000683693.1:n.6126G>C
ENST00000683725.1:c.4346G>C	ENSP00000507496.1:p.Gly1449Ala
ENST00000684010.1:n.4660G>C
ENST00000684014.1:n.637G>C
ENST00000684157.1:n.5650G>C
ENST00000684253.1:n.4568G>C
ENST00000684288.1:c.*2622G>C	ENSP00000507143.1:n.*2622G>C
ENST00000684313.1:n.4097G>C
ENST00000684332.1:n.4738G>C
ENST00000684371.1:n.4771G>C
ENST00000684404.1:n.5693G>C
ENST00000684442.1:n.4889G>C
ENST00000684555.1:c.*2662G>C	ENSP00000507705.1:n.*2662G>C
ENST00000684571.1:c.4291G>C	ENSP00000506935.1:p.Gly1431Arg
ENST00000684593.1:c.*4155G>C	ENSP00000507005.1:n.*4155G>C
ENST00000684711.1:c.*2846G>C	ENSP00000506841.1:n.*2846G>C
ENST00000302539.9:c.4453G>C	ENSP00000303960.4:p.Gly1485Arg
ENST00000389817.8:c.4450G>C MANE Select	ENSP00000374467.4:p.Gly1484Arg
ENST00000642271.1:c.4447G>C	ENSP00000493749.1:p.Gly1483Arg
ENST00000642579.1:c.2504G>C
ENST00000642611.1:n.5668G>C
ENST00000642902.1:c.4232G>C
ENST00000643260.1:c.4450G>C	ENSP00000494450.1:p.Gly1484Arg
ENST00000643562.1:c.*2572G>C	ENSP00000496124.1:n.*2572G>C
ENST00000643925.1:c.3090G>C
ENST00000644057.1:n.609G>C
ENST00000644484.1:c.*3836G>C	ENSP00000493558.1:n.*3836G>C
ENST00000644675.1:c.*2622G>C	ENSP00000494567.1:n.*2622G>C
ENST00000644757.1:c.*3203-1381G>C	ENSP00000495085.1:n.*3203-1381G>C
ENST00000644772.1:c.4516G>C	ENSP00000494321.1:p.Gly1506Arg
ENST00000645004.1:n.2143G>C
ENST00000645076.1:c.3545G>C
ENST00000645417.1:c.1638G>C
ENST00000645744.1:c.*4135G>C	ENSP00000494564.1:n.*4135G>C
ENST00000645760.1:c.4871G>C
ENST00000645884.1:c.*1733G>C	ENSP00000495516.1:n.*1733G>C
ENST00000646003.1:c.*2472G>C	ENSP00000495259.1:n.*2472G>C
ENST00000646207.1:c.*3287G>C	ENSP00000495025.1:n.*3287G>C
ENST00000646276.1:c.*3854G>C	ENSP00000496070.1:n.*3854G>C
ENST00000646592.1:c.3756G>C
ENST00000646902.1:c.4417G>C	ENSP00000494101.1:p.Gly1473Arg
ENST00000646993.1:c.*2888G>C	ENSP00000493720.1:n.*2888G>C
ENST00000647013.1:c.4456G>C	ENSP00000496741.1:n.4456G>C
ENST00000647015.1:c.4201G>C	ENSP00000495389.1:p.Gly1401Arg
ENST00000647086.1:c.*4036G>C	ENSP00000493677.1:n.*4036G>C
ENST00000647158.1:c.*2737G>C	ENSP00000495744.1:n.*2737G>C
ENST00000302539.8:c.4453G>C	ENSP00000303960.4:p.Gly1485Arg
ENST00000389817.7:c.4450G>C	ENSP00000374467.3:p.Gly1484Arg
ENST00000525022.1:n.345G>C
ENST00000526037.5:n.210G>C
ENST00000526168.5:c.238G>C
ENST00000531642.5:c.481G>C
NM_000352.4:c.4450G>C	NP_000343.2:p.Gly1484Arg
NM_001287174.1:c.4453G>C	NP_001274103.1:p.Gly1485Arg
XM_011520331.1:c.4450G>C	XP_011518633.1:p.Gly1484Arg
XM_011520332.1:c.4349G>C	XP_011518634.1:p.Gly1450Ala
XM_011520333.1:c.2950G>C	XP_011518635.1:p.Gly984Arg
XR_930890.1:n.4412G>C
NM_001351295.1:c.4516G>C	NP_001338224.1:p.Gly1506Arg
NM_001351296.1:c.4450G>C	NP_001338225.1:p.Gly1484Arg
NM_001351297.1:c.4447G>C	NP_001338226.1:p.Gly1483Arg
NR_147094.1:n.4745G>C
XM_017018197.2:c.4519G>C	XP_016873686.1:p.Gly1507Arg
XM_017018199.1:c.4516G>C	XP_016873688.1:p.Gly1506Arg
XM_017018201.2:c.4415G>C	XP_016873690.1:p.Gly1472Ala
XM_017018202.1:c.3016G>C	XP_016873691.1:p.Gly1006Arg
XM_017018204.1:c.2407G>C	XP_016873693.1:p.Gly803Arg
XM_024448668.1:c.2818G>C	XP_024304436.1:p.Gly940Arg
XR_001747945.2:n.4487G>C
XR_001747946.2:n.4418G>C
XR_002957189.1:n.6201G>C
NM_000352.6:c.4450G>C MANE Select	NP_000343.2:p.Gly1484Arg
NM_001287174.2:c.4453G>C	NP_001274103.1:p.Gly1485Arg
NM_001351295.2:c.4516G>C	NP_001338224.1:p.Gly1506Arg
NM_001351296.2:c.4450G>C	NP_001338225.1:p.Gly1484Arg
NM_001351297.2:c.4447G>C	NP_001338226.1:p.Gly1483Arg
NR_147094.2:n.4745G>C
NM_001287174.3:c.4453G>C	NP_001274103.1:p.Gly1485Arg