Canonical Allele Identifier: CA379781719

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415245G>C (hg19) ; chr11:g.17393698G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393698G>C , CM000673.2:g.17393698G>C	GRCh38
NC_000011.9:g.17415245G>C , CM000673.1:g.17415245G>C	GRCh37
NC_000011.8:g.17371821G>C	NCBI36
NG_008867.1:g.88205C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4208C>G
ENST00000526037.6:n.542C>G
ENST00000528374.2:c.1198C>G
ENST00000529967.6:n.2946C>G
ENST00000532220.2:n.3840C>G
ENST00000642611.2:n.5940C>G
ENST00000644057.2:n.1183C>G
ENST00000645004.2:n.2106C>G
ENST00000682051.1:n.4769C>G
ENST00000682110.1:n.4822C>G
ENST00000682140.1:c.*393C>G	ENSP00000507829.1:n.*393C>G
ENST00000682185.1:n.5912C>G
ENST00000682204.1:c.*2745C>G	ENSP00000507094.1:n.*2745C>G
ENST00000682215.1:n.5189C>G
ENST00000682288.1:c.*3038C>G	ENSP00000507506.1:n.*3038C>G
ENST00000682442.1:n.5042C>G
ENST00000682528.1:n.4899C>G
ENST00000682673.1:n.4766C>G
ENST00000682805.1:n.5227C>G
ENST00000682965.1:c.*1029C>G	ENSP00000508229.1:n.*1029C>G
ENST00000683093.1:n.5802C>G
ENST00000683136.1:c.4490C>G	ENSP00000507768.1:p.Ala1497Gly
ENST00000683153.1:n.4864C>G
ENST00000683365.1:n.4924C>G
ENST00000683377.1:n.4718C>G
ENST00000683456.1:c.*1744C>G	ENSP00000508318.1:n.*1744C>G
ENST00000683522.1:n.4904C>G
ENST00000683562.1:c.*2672C>G	ENSP00000508265.1:n.*2672C>G
ENST00000683693.1:n.6283C>G
ENST00000683725.1:c.*72C>G	ENSP00000507496.1:n.*72C>G
ENST00000684010.1:n.4817C>G
ENST00000684014.1:n.794C>G
ENST00000684157.1:n.5807C>G
ENST00000684253.1:n.4725C>G
ENST00000684288.1:c.*2779C>G	ENSP00000507143.1:n.*2779C>G
ENST00000684313.1:n.4254C>G
ENST00000684332.1:n.4895C>G
ENST00000684371.1:n.4928C>G
ENST00000684404.1:n.5850C>G
ENST00000684442.1:n.5046C>G
ENST00000684555.1:c.*2819C>G	ENSP00000507705.1:n.*2819C>G
ENST00000684571.1:c.4448C>G	ENSP00000506935.1:p.Ala1483Gly
ENST00000684593.1:c.*4312C>G	ENSP00000507005.1:n.*4312C>G
ENST00000684711.1:c.*3003C>G	ENSP00000506841.1:n.*3003C>G
ENST00000302539.9:c.4610C>G	ENSP00000303960.4:p.Ala1537Gly
ENST00000389817.8:c.4607C>G MANE Select	ENSP00000374467.4:p.Ala1536Gly
ENST00000642271.1:c.4604C>G	ENSP00000493749.1:p.Ala1535Gly
ENST00000642579.1:c.2661C>G
ENST00000642611.1:n.5825C>G
ENST00000642902.1:c.4389C>G
ENST00000643260.1:c.4607C>G	ENSP00000494450.1:p.Ala1536Gly
ENST00000643562.1:c.*2729C>G	ENSP00000496124.1:n.*2729C>G
ENST00000643925.1:c.3185+568C>G
ENST00000644057.1:n.766C>G
ENST00000644484.1:c.*3993C>G	ENSP00000493558.1:n.*3993C>G
ENST00000644675.1:c.*2779C>G	ENSP00000494567.1:n.*2779C>G
ENST00000644757.1:c.*3203-718C>G	ENSP00000495085.1:n.*3203-718C>G
ENST00000644772.1:c.4673C>G	ENSP00000494321.1:p.Ala1558Gly
ENST00000645004.1:n.2300C>G
ENST00000645076.1:c.3702C>G
ENST00000645417.1:c.1795C>G
ENST00000645744.1:c.*4292C>G	ENSP00000494564.1:n.*4292C>G
ENST00000645760.1:c.5028C>G
ENST00000645884.1:c.*1890C>G	ENSP00000495516.1:n.*1890C>G
ENST00000646003.1:c.*2629C>G	ENSP00000495259.1:n.*2629C>G
ENST00000646207.1:c.*3444C>G	ENSP00000495025.1:n.*3444C>G
ENST00000646276.1:c.*4011C>G	ENSP00000496070.1:n.*4011C>G
ENST00000646592.1:c.3913C>G
ENST00000646902.1:c.4574C>G	ENSP00000494101.1:p.Ala1525Gly
ENST00000646993.1:c.*3045C>G	ENSP00000493720.1:n.*3045C>G
ENST00000647015.1:c.4358C>G	ENSP00000495389.1:p.Ala1453Gly
ENST00000647086.1:c.*4193C>G	ENSP00000493677.1:n.*4193C>G
ENST00000647158.1:c.*2894C>G	ENSP00000495744.1:n.*2894C>G
ENST00000302539.8:c.4610C>G	ENSP00000303960.4:p.Ala1537Gly
ENST00000389817.7:c.4607C>G	ENSP00000374467.3:p.Ala1536Gly
ENST00000525022.1:n.502C>G
ENST00000526037.5:n.367C>G
ENST00000526168.5:c.395C>G
ENST00000531642.5:c.638C>G
NM_000352.4:c.4607C>G	NP_000343.2:p.Ala1536Gly
NM_001287174.1:c.4610C>G	NP_001274103.1:p.Ala1537Gly
XM_011520331.1:c.4607C>G	XP_011518633.1:p.Ala1536Gly
XM_011520333.1:c.3107C>G	XP_011518635.1:p.Ala1036Gly
XR_930890.1:n.4569C>G
NM_001351295.1:c.4673C>G	NP_001338224.1:p.Ala1558Gly
NM_001351296.1:c.4607C>G	NP_001338225.1:p.Ala1536Gly
NM_001351297.1:c.4604C>G	NP_001338226.1:p.Ala1535Gly
NR_147094.1:n.4902C>G
XM_017018197.2:c.4676C>G	XP_016873686.1:p.Ala1559Gly
XM_017018199.1:c.4673C>G	XP_016873688.1:p.Ala1558Gly
XM_017018202.1:c.3173C>G	XP_016873691.1:p.Ala1058Gly
XM_017018204.1:c.2564C>G	XP_016873693.1:p.Ala855Gly
XM_024448668.1:c.2975C>G	XP_024304436.1:p.Ala992Gly
XR_001747945.2:n.4644C>G
XR_001747946.2:n.4575C>G
XR_002957189.1:n.6358C>G
NM_000352.6:c.4607C>G MANE Select	NP_000343.2:p.Ala1536Gly
NM_001287174.2:c.4610C>G	NP_001274103.1:p.Ala1537Gly
NM_001351295.2:c.4673C>G	NP_001338224.1:p.Ala1558Gly
NM_001351296.2:c.4607C>G	NP_001338225.1:p.Ala1536Gly
NM_001351297.2:c.4604C>G	NP_001338226.1:p.Ala1535Gly
NR_147094.2:n.4902C>G
NM_001287174.3:c.4610C>G	NP_001274103.1:p.Ala1537Gly