Canonical Allele Identifier: CA379786286

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395611-G-C
• MyVariant Identifiers: chr11:g.17417158G>C (hg19) ; chr11:g.17395611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395611G>C , CM000673.2:g.17395611G>C	GRCh38
NC_000011.9:g.17417158G>C , CM000673.1:g.17417158G>C	GRCh37
NC_000011.8:g.17373734G>C	NCBI36
NG_008867.1:g.86292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3907C>G
ENST00000528374.2:c.897C>G
ENST00000529967.6:n.2645C>G
ENST00000532220.2:n.3539C>G
ENST00000642611.2:n.5639C>G
ENST00000644057.2:n.882C>G
ENST00000645004.2:n.1805C>G
ENST00000682051.1:n.4468C>G
ENST00000682110.1:n.4521C>G
ENST00000682140.1:c.*92C>G	ENSP00000507829.1:n.*92C>G
ENST00000682185.1:n.5611C>G
ENST00000682204.1:c.*2444C>G	ENSP00000507094.1:n.*2444C>G
ENST00000682215.1:n.4888C>G
ENST00000682288.1:c.*2737C>G	ENSP00000507506.1:n.*2737C>G
ENST00000682442.1:n.4741C>G
ENST00000682528.1:n.4598C>G
ENST00000682673.1:n.4465C>G
ENST00000682805.1:n.4926C>G
ENST00000682965.1:c.*728C>G	ENSP00000508229.1:n.*728C>G
ENST00000683093.1:n.5605C>G
ENST00000683136.1:c.4189C>G	ENSP00000507768.1:p.Arg1397Gly
ENST00000683153.1:n.4563C>G
ENST00000683365.1:n.4623C>G
ENST00000683377.1:n.4521C>G
ENST00000683456.1:c.*1443C>G	ENSP00000508318.1:n.*1443C>G
ENST00000683522.1:n.4521C>G
ENST00000683562.1:c.*2475C>G	ENSP00000508265.1:n.*2475C>G
ENST00000683693.1:n.6086C>G
ENST00000683725.1:c.4306C>G	ENSP00000507496.1:p.Arg1436Gly
ENST00000684010.1:n.4516C>G
ENST00000684157.1:n.5506C>G
ENST00000684253.1:n.4424C>G
ENST00000684288.1:c.*2478C>G	ENSP00000507143.1:n.*2478C>G
ENST00000684313.1:n.3953C>G
ENST00000684332.1:n.4594C>G
ENST00000684371.1:n.4627C>G
ENST00000684404.1:n.5549C>G
ENST00000684442.1:n.4745C>G
ENST00000684555.1:c.*2518C>G	ENSP00000507705.1:n.*2518C>G
ENST00000684571.1:c.4147C>G	ENSP00000506935.1:p.Arg1383Gly
ENST00000684593.1:c.*4011C>G	ENSP00000507005.1:n.*4011C>G
ENST00000684711.1:c.*2702C>G	ENSP00000506841.1:n.*2702C>G
ENST00000302539.9:c.4309C>G	ENSP00000303960.4:p.Arg1437Gly
ENST00000389817.8:c.4306C>G MANE Select	ENSP00000374467.4:p.Arg1436Gly
ENST00000642271.1:c.4303C>G	ENSP00000493749.1:p.Arg1435Gly
ENST00000642579.1:c.2360C>G
ENST00000642611.1:n.5524C>G
ENST00000642902.1:c.4088C>G
ENST00000643260.1:c.4306C>G	ENSP00000494450.1:p.Arg1436Gly
ENST00000643562.1:c.*2428C>G	ENSP00000496124.1:n.*2428C>G
ENST00000643925.1:c.2946C>G
ENST00000644057.1:n.383C>G
ENST00000644484.1:c.*3692C>G	ENSP00000493558.1:n.*3692C>G
ENST00000644675.1:c.*2478C>G	ENSP00000494567.1:n.*2478C>G
ENST00000644757.1:c.*3202+653C>G	ENSP00000495085.1:n.*3202+653C>G
ENST00000644772.1:c.4372C>G	ENSP00000494321.1:p.Arg1458Gly
ENST00000645004.1:n.1999C>G
ENST00000645076.1:c.3505C>G
ENST00000645417.1:c.1494C>G
ENST00000645744.1:c.*3991C>G	ENSP00000494564.1:n.*3991C>G
ENST00000645760.1:c.4727C>G
ENST00000645884.1:c.*1589C>G	ENSP00000495516.1:n.*1589C>G
ENST00000646003.1:c.*2328C>G	ENSP00000495259.1:n.*2328C>G
ENST00000646207.1:c.*3143C>G	ENSP00000495025.1:n.*3143C>G
ENST00000646276.1:c.*3710C>G	ENSP00000496070.1:n.*3710C>G
ENST00000646592.1:c.3612C>G
ENST00000646902.1:c.4273C>G	ENSP00000494101.1:p.Arg1425Gly
ENST00000646993.1:c.*2848C>G	ENSP00000493720.1:n.*2848C>G
ENST00000647013.1:c.4312C>G	ENSP00000496741.1:n.4312C>G
ENST00000647015.1:c.4057C>G	ENSP00000495389.1:p.Arg1353Gly
ENST00000647086.1:c.*3892C>G	ENSP00000493677.1:n.*3892C>G
ENST00000647158.1:c.*2593C>G	ENSP00000495744.1:n.*2593C>G
ENST00000302539.8:c.4309C>G	ENSP00000303960.4:p.Arg1437Gly
ENST00000389817.7:c.4306C>G	ENSP00000374467.3:p.Arg1436Gly
ENST00000525022.1:n.305C>G
ENST00000526037.5:n.170C>G
ENST00000526168.5:c.94C>G
ENST00000531642.5:c.142C>G
NM_000352.4:c.4306C>G	NP_000343.2:p.Arg1436Gly
NM_001287174.1:c.4309C>G	NP_001274103.1:p.Arg1437Gly
XM_011520331.1:c.4306C>G	XP_011518633.1:p.Arg1436Gly
XM_011520332.1:c.4309C>G	XP_011518634.1:p.Arg1437Gly
XM_011520333.1:c.2806C>G	XP_011518635.1:p.Arg936Gly
XR_930890.1:n.4372C>G
NM_001351295.1:c.4372C>G	NP_001338224.1:p.Arg1458Gly
NM_001351296.1:c.4306C>G	NP_001338225.1:p.Arg1436Gly
NM_001351297.1:c.4303C>G	NP_001338226.1:p.Arg1435Gly
NR_147094.1:n.4601C>G
XM_017018197.2:c.4375C>G	XP_016873686.1:p.Arg1459Gly
XM_017018199.1:c.4372C>G	XP_016873688.1:p.Arg1458Gly
XM_017018201.2:c.4375C>G	XP_016873690.1:p.Arg1459Gly
XM_017018202.1:c.2872C>G	XP_016873691.1:p.Arg958Gly
XM_017018204.1:c.2263C>G	XP_016873693.1:p.Arg755Gly
XM_024448668.1:c.2674C>G	XP_024304436.1:p.Arg892Gly
XR_001747945.2:n.4447C>G
XR_001747946.2:n.4378C>G
XR_002957189.1:n.6161C>G
NM_000352.6:c.4306C>G MANE Select	NP_000343.2:p.Arg1436Gly
NM_001287174.2:c.4309C>G	NP_001274103.1:p.Arg1437Gly
NM_001351295.2:c.4372C>G	NP_001338224.1:p.Arg1458Gly
NM_001351296.2:c.4306C>G	NP_001338225.1:p.Arg1436Gly
NM_001351297.2:c.4303C>G	NP_001338226.1:p.Arg1435Gly
NR_147094.2:n.4601C>G
NM_001287174.3:c.4309C>G	NP_001274103.1:p.Arg1437Gly