Canonical Allele Identifier: CA379782039

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415276C>A (hg19) ; chr11:g.17393729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393729C>A , CM000673.2:g.17393729C>A	GRCh38
NC_000011.9:g.17415276C>A , CM000673.1:g.17415276C>A	GRCh37
NC_000011.8:g.17371852C>A	NCBI36
NG_008867.1:g.88174G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4177G>T
ENST00000526037.6:n.511G>T
ENST00000528374.2:c.1167G>T
ENST00000529967.6:n.2915G>T
ENST00000532220.2:n.3809G>T
ENST00000642611.2:n.5909G>T
ENST00000644057.2:n.1152G>T
ENST00000645004.2:n.2075G>T
ENST00000682051.1:n.4738G>T
ENST00000682110.1:n.4791G>T
ENST00000682140.1:c.*362G>T	ENSP00000507829.1:n.*362G>T
ENST00000682185.1:n.5881G>T
ENST00000682204.1:c.*2714G>T	ENSP00000507094.1:n.*2714G>T
ENST00000682215.1:n.5158G>T
ENST00000682288.1:c.*3007G>T	ENSP00000507506.1:n.*3007G>T
ENST00000682442.1:n.5011G>T
ENST00000682528.1:n.4868G>T
ENST00000682673.1:n.4735G>T
ENST00000682805.1:n.5196G>T
ENST00000682965.1:c.*998G>T	ENSP00000508229.1:n.*998G>T
ENST00000683093.1:n.5771G>T
ENST00000683136.1:c.4459G>T	ENSP00000507768.1:p.Ala1487Ser
ENST00000683153.1:n.4833G>T
ENST00000683365.1:n.4893G>T
ENST00000683377.1:n.4687G>T
ENST00000683456.1:c.*1713G>T	ENSP00000508318.1:n.*1713G>T
ENST00000683522.1:n.4873G>T
ENST00000683562.1:c.*2641G>T	ENSP00000508265.1:n.*2641G>T
ENST00000683693.1:n.6252G>T
ENST00000683725.1:c.*41G>T	ENSP00000507496.1:n.*41G>T
ENST00000684010.1:n.4786G>T
ENST00000684014.1:n.763G>T
ENST00000684157.1:n.5776G>T
ENST00000684253.1:n.4694G>T
ENST00000684288.1:c.*2748G>T	ENSP00000507143.1:n.*2748G>T
ENST00000684313.1:n.4223G>T
ENST00000684332.1:n.4864G>T
ENST00000684371.1:n.4897G>T
ENST00000684404.1:n.5819G>T
ENST00000684442.1:n.5015G>T
ENST00000684555.1:c.*2788G>T	ENSP00000507705.1:n.*2788G>T
ENST00000684571.1:c.4417G>T	ENSP00000506935.1:p.Ala1473Ser
ENST00000684593.1:c.*4281G>T	ENSP00000507005.1:n.*4281G>T
ENST00000684711.1:c.*2972G>T	ENSP00000506841.1:n.*2972G>T
ENST00000302539.9:c.4579G>T	ENSP00000303960.4:p.Ala1527Ser
ENST00000389817.8:c.4576G>T MANE Select	ENSP00000374467.4:p.Ala1526Ser
ENST00000642271.1:c.4573G>T	ENSP00000493749.1:p.Ala1525Ser
ENST00000642579.1:c.2630G>T
ENST00000642611.1:n.5794G>T
ENST00000642902.1:c.4358G>T
ENST00000643260.1:c.4576G>T	ENSP00000494450.1:p.Ala1526Ser
ENST00000643562.1:c.*2698G>T	ENSP00000496124.1:n.*2698G>T
ENST00000643925.1:c.3185+537G>T
ENST00000644057.1:n.735G>T
ENST00000644484.1:c.*3962G>T	ENSP00000493558.1:n.*3962G>T
ENST00000644675.1:c.*2748G>T	ENSP00000494567.1:n.*2748G>T
ENST00000644757.1:c.*3203-749G>T	ENSP00000495085.1:n.*3203-749G>T
ENST00000644772.1:c.4642G>T	ENSP00000494321.1:p.Ala1548Ser
ENST00000645004.1:n.2269G>T
ENST00000645076.1:c.3671G>T
ENST00000645417.1:c.1764G>T
ENST00000645744.1:c.*4261G>T	ENSP00000494564.1:n.*4261G>T
ENST00000645760.1:c.4997G>T
ENST00000645884.1:c.*1859G>T	ENSP00000495516.1:n.*1859G>T
ENST00000646003.1:c.*2598G>T	ENSP00000495259.1:n.*2598G>T
ENST00000646207.1:c.*3413G>T	ENSP00000495025.1:n.*3413G>T
ENST00000646276.1:c.*3980G>T	ENSP00000496070.1:n.*3980G>T
ENST00000646592.1:c.3882G>T
ENST00000646902.1:c.4543G>T	ENSP00000494101.1:p.Ala1515Ser
ENST00000646993.1:c.*3014G>T	ENSP00000493720.1:n.*3014G>T
ENST00000647015.1:c.4327G>T	ENSP00000495389.1:p.Ala1443Ser
ENST00000647086.1:c.*4162G>T	ENSP00000493677.1:n.*4162G>T
ENST00000647158.1:c.*2863G>T	ENSP00000495744.1:n.*2863G>T
ENST00000302539.8:c.4579G>T	ENSP00000303960.4:p.Ala1527Ser
ENST00000389817.7:c.4576G>T	ENSP00000374467.3:p.Ala1526Ser
ENST00000525022.1:n.471G>T
ENST00000526037.5:n.336G>T
ENST00000526168.5:c.364G>T
ENST00000531642.5:c.607G>T
NM_000352.4:c.4576G>T	NP_000343.2:p.Ala1526Ser
NM_001287174.1:c.4579G>T	NP_001274103.1:p.Ala1527Ser
XM_011520331.1:c.4576G>T	XP_011518633.1:p.Ala1526Ser
XM_011520333.1:c.3076G>T	XP_011518635.1:p.Ala1026Ser
XR_930890.1:n.4538G>T
NM_001351295.1:c.4642G>T	NP_001338224.1:p.Ala1548Ser
NM_001351296.1:c.4576G>T	NP_001338225.1:p.Ala1526Ser
NM_001351297.1:c.4573G>T	NP_001338226.1:p.Ala1525Ser
NR_147094.1:n.4871G>T
XM_017018197.2:c.4645G>T	XP_016873686.1:p.Ala1549Ser
XM_017018199.1:c.4642G>T	XP_016873688.1:p.Ala1548Ser
XM_017018202.1:c.3142G>T	XP_016873691.1:p.Ala1048Ser
XM_017018204.1:c.2533G>T	XP_016873693.1:p.Ala845Ser
XM_024448668.1:c.2944G>T	XP_024304436.1:p.Ala982Ser
XR_001747945.2:n.4613G>T
XR_001747946.2:n.4544G>T
XR_002957189.1:n.6327G>T
NM_000352.6:c.4576G>T MANE Select	NP_000343.2:p.Ala1526Ser
NM_001287174.2:c.4579G>T	NP_001274103.1:p.Ala1527Ser
NM_001351295.2:c.4642G>T	NP_001338224.1:p.Ala1548Ser
NM_001351296.2:c.4576G>T	NP_001338225.1:p.Ala1526Ser
NM_001351297.2:c.4573G>T	NP_001338226.1:p.Ala1525Ser
NR_147094.2:n.4871G>T
NM_001287174.3:c.4579G>T	NP_001274103.1:p.Ala1527Ser