Canonical Allele Identifier: CA379788308

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395908-C-A
• MyVariant Identifiers: chr11:g.17417455C>A (hg19) ; chr11:g.17395908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395908C>A , CM000673.2:g.17395908C>A	GRCh38
NC_000011.9:g.17417455C>A , CM000673.1:g.17417455C>A	GRCh37
NC_000011.8:g.17374031C>A	NCBI36
NG_008867.1:g.85995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3743G>T
ENST00000528374.2:c.733G>T
ENST00000529967.6:n.2481G>T
ENST00000532220.2:n.3375G>T
ENST00000642611.2:n.5342G>T
ENST00000644057.2:n.585G>T
ENST00000645004.2:n.1641G>T
ENST00000682051.1:n.4304G>T
ENST00000682110.1:n.4357G>T
ENST00000682140.1:c.4008G>T	ENSP00000507829.1:p.Arg1336=
ENST00000682185.1:n.5447G>T
ENST00000682204.1:c.*2280G>T	ENSP00000507094.1:n.*2280G>T
ENST00000682215.1:n.4724G>T
ENST00000682288.1:c.*2573G>T	ENSP00000507506.1:n.*2573G>T
ENST00000682442.1:n.4577G>T
ENST00000682528.1:n.4434G>T
ENST00000682673.1:n.4301G>T
ENST00000682805.1:n.4762G>T
ENST00000682965.1:c.*564G>T	ENSP00000508229.1:n.*564G>T
ENST00000683093.1:n.5441G>T
ENST00000683136.1:c.4025G>T	ENSP00000507768.1:p.Gly1342Val
ENST00000683153.1:n.4399G>T
ENST00000683365.1:n.4459G>T
ENST00000683377.1:n.4357G>T
ENST00000683456.1:c.*1279G>T	ENSP00000508318.1:n.*1279G>T
ENST00000683522.1:n.4357G>T
ENST00000683562.1:c.*2311G>T	ENSP00000508265.1:n.*2311G>T
ENST00000683693.1:n.5789G>T
ENST00000683725.1:c.4142G>T	ENSP00000507496.1:p.Gly1381Val
ENST00000684010.1:n.4352G>T
ENST00000684157.1:n.5342G>T
ENST00000684253.1:n.4260G>T
ENST00000684288.1:c.*2314G>T	ENSP00000507143.1:n.*2314G>T
ENST00000684313.1:n.3789G>T
ENST00000684332.1:n.4430G>T
ENST00000684371.1:n.4463G>T
ENST00000684404.1:n.5385G>T
ENST00000684442.1:n.4581G>T
ENST00000684555.1:c.*2354G>T	ENSP00000507705.1:n.*2354G>T
ENST00000684571.1:c.3983G>T	ENSP00000506935.1:p.Gly1328Val
ENST00000684593.1:c.*3847G>T	ENSP00000507005.1:n.*3847G>T
ENST00000684711.1:c.*2538G>T	ENSP00000506841.1:n.*2538G>T
ENST00000302539.9:c.4145G>T	ENSP00000303960.4:p.Gly1382Val
ENST00000389817.8:c.4142G>T MANE Select	ENSP00000374467.4:p.Gly1381Val
ENST00000642271.1:c.4139G>T	ENSP00000493749.1:p.Gly1380Val
ENST00000642579.1:c.2196G>T
ENST00000642611.1:n.5227G>T
ENST00000642902.1:c.3924G>T
ENST00000643260.1:c.4142G>T	ENSP00000494450.1:p.Gly1381Val
ENST00000643562.1:c.*2264G>T	ENSP00000496124.1:n.*2264G>T
ENST00000643925.1:c.2782G>T
ENST00000644057.1:n.219G>T
ENST00000644484.1:c.*3528G>T	ENSP00000493558.1:n.*3528G>T
ENST00000644675.1:c.*2314G>T	ENSP00000494567.1:n.*2314G>T
ENST00000644757.1:c.*3202+356G>T	ENSP00000495085.1:n.*3202+356G>T
ENST00000644772.1:c.4208G>T	ENSP00000494321.1:p.Gly1403Val
ENST00000645004.1:n.1835G>T
ENST00000645076.1:c.3341G>T
ENST00000645417.1:c.1330G>T
ENST00000645744.1:c.*3907G>T	ENSP00000494564.1:n.*3907G>T
ENST00000645760.1:c.4563G>T
ENST00000645884.1:c.*1425G>T	ENSP00000495516.1:n.*1425G>T
ENST00000646003.1:c.*2244G>T	ENSP00000495259.1:n.*2244G>T
ENST00000646207.1:c.*2979G>T	ENSP00000495025.1:n.*2979G>T
ENST00000646276.1:c.*3546G>T	ENSP00000496070.1:n.*3546G>T
ENST00000646592.1:c.3448G>T
ENST00000646902.1:c.4109G>T	ENSP00000494101.1:p.Gly1370Val
ENST00000646993.1:c.*2684G>T	ENSP00000493720.1:n.*2684G>T
ENST00000647013.1:c.4148G>T	ENSP00000496741.1:n.4148G>T
ENST00000647015.1:c.3893G>T	ENSP00000495389.1:p.Gly1298Val
ENST00000647086.1:c.*3728G>T	ENSP00000493677.1:n.*3728G>T
ENST00000647158.1:c.*2429G>T	ENSP00000495744.1:n.*2429G>T
ENST00000302539.8:c.4145G>T	ENSP00000303960.4:p.Gly1382Val
ENST00000389817.7:c.4142G>T	ENSP00000374467.3:p.Gly1381Val
ENST00000525022.1:n.8G>T
ENST00000526168.5:c.10G>T
NM_000352.4:c.4142G>T	NP_000343.2:p.Gly1381Val
NM_001287174.1:c.4145G>T	NP_001274103.1:p.Gly1382Val
XM_011520331.1:c.4142G>T	XP_011518633.1:p.Gly1381Val
XM_011520332.1:c.4145G>T	XP_011518634.1:p.Gly1382Val
XM_011520333.1:c.2642G>T	XP_011518635.1:p.Gly881Val
XR_930890.1:n.4208G>T
NM_001351295.1:c.4208G>T	NP_001338224.1:p.Gly1403Val
NM_001351296.1:c.4142G>T	NP_001338225.1:p.Gly1381Val
NM_001351297.1:c.4139G>T	NP_001338226.1:p.Gly1380Val
NR_147094.1:n.4437G>T
XM_017018197.2:c.4211G>T	XP_016873686.1:p.Gly1404Val
XM_017018199.1:c.4208G>T	XP_016873688.1:p.Gly1403Val
XM_017018201.2:c.4211G>T	XP_016873690.1:p.Gly1404Val
XM_017018202.1:c.2708G>T	XP_016873691.1:p.Gly903Val
XM_017018204.1:c.2099G>T	XP_016873693.1:p.Gly700Val
XM_024448668.1:c.2510G>T	XP_024304436.1:p.Gly837Val
XR_001747945.2:n.4283G>T
XR_001747946.2:n.4214G>T
XR_002957189.1:n.5864G>T
NM_000352.6:c.4142G>T MANE Select	NP_000343.2:p.Gly1381Val
NM_001287174.2:c.4145G>T	NP_001274103.1:p.Gly1382Val
NM_001351295.2:c.4208G>T	NP_001338224.1:p.Gly1403Val
NM_001351296.2:c.4142G>T	NP_001338225.1:p.Gly1381Val
NM_001351297.2:c.4139G>T	NP_001338226.1:p.Gly1380Val
NR_147094.2:n.4437G>T
NM_001287174.3:c.4145G>T	NP_001274103.1:p.Gly1382Val