Canonical Allele Identifier: CA379782982

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394308-G-C
• MyVariant Identifiers: chr11:g.17415855G>C (hg19) ; chr11:g.17394308G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394308G>C , CM000673.2:g.17394308G>C	GRCh38
NC_000011.9:g.17415855G>C , CM000673.1:g.17415855G>C	GRCh37
NC_000011.8:g.17372431G>C	NCBI36
NG_008867.1:g.87595C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4104C>G
ENST00000526037.6:n.438C>G
ENST00000528374.2:c.1094C>G
ENST00000529967.6:n.2842C>G
ENST00000532220.2:n.3736C>G
ENST00000642611.2:n.5836C>G
ENST00000644057.2:n.1079C>G
ENST00000645004.2:n.2002C>G
ENST00000682051.1:n.4665C>G
ENST00000682110.1:n.4718C>G
ENST00000682140.1:c.*289C>G	ENSP00000507829.1:n.*289C>G
ENST00000682185.1:n.5808C>G
ENST00000682204.1:c.*2641C>G	ENSP00000507094.1:n.*2641C>G
ENST00000682215.1:n.5085C>G
ENST00000682288.1:c.*2934C>G	ENSP00000507506.1:n.*2934C>G
ENST00000682442.1:n.4938C>G
ENST00000682528.1:n.4795C>G
ENST00000682673.1:n.4662C>G
ENST00000682805.1:n.5123C>G
ENST00000682965.1:c.*925C>G	ENSP00000508229.1:n.*925C>G
ENST00000683093.1:n.5698C>G
ENST00000683136.1:c.4386C>G	ENSP00000507768.1:p.Ile1462Met
ENST00000683153.1:n.4760C>G
ENST00000683365.1:n.4820C>G
ENST00000683377.1:n.4614C>G
ENST00000683456.1:c.*1640C>G	ENSP00000508318.1:n.*1640C>G
ENST00000683522.1:n.4800C>G
ENST00000683562.1:c.*2568C>G	ENSP00000508265.1:n.*2568C>G
ENST00000683693.1:n.6179C>G
ENST00000683725.1:c.4399C>G	ENSP00000507496.1:p.Leu1467Val
ENST00000684010.1:n.4713C>G
ENST00000684014.1:n.690C>G
ENST00000684157.1:n.5703C>G
ENST00000684253.1:n.4621C>G
ENST00000684288.1:c.*2675C>G	ENSP00000507143.1:n.*2675C>G
ENST00000684313.1:n.4150C>G
ENST00000684332.1:n.4791C>G
ENST00000684371.1:n.4824C>G
ENST00000684404.1:n.5746C>G
ENST00000684442.1:n.4942C>G
ENST00000684555.1:c.*2715C>G	ENSP00000507705.1:n.*2715C>G
ENST00000684571.1:c.4344C>G	ENSP00000506935.1:p.Ile1448Met
ENST00000684593.1:c.*4208C>G	ENSP00000507005.1:n.*4208C>G
ENST00000684711.1:c.*2899C>G	ENSP00000506841.1:n.*2899C>G
ENST00000302539.9:c.4506C>G	ENSP00000303960.4:p.Ile1502Met
ENST00000389817.8:c.4503C>G MANE Select	ENSP00000374467.4:p.Ile1501Met
ENST00000642271.1:c.4500C>G	ENSP00000493749.1:p.Ile1500Met
ENST00000642579.1:c.2557C>G
ENST00000642611.1:n.5721C>G
ENST00000642902.1:c.4285C>G
ENST00000643260.1:c.4503C>G	ENSP00000494450.1:p.Ile1501Met
ENST00000643562.1:c.*2625C>G	ENSP00000496124.1:n.*2625C>G
ENST00000643925.1:c.3143C>G
ENST00000644057.1:n.662C>G
ENST00000644484.1:c.*3889C>G	ENSP00000493558.1:n.*3889C>G
ENST00000644675.1:c.*2675C>G	ENSP00000494567.1:n.*2675C>G
ENST00000644757.1:c.*3203-1328C>G	ENSP00000495085.1:n.*3203-1328C>G
ENST00000644772.1:c.4569C>G	ENSP00000494321.1:p.Ile1523Met
ENST00000645004.1:n.2196C>G
ENST00000645076.1:c.3598C>G
ENST00000645417.1:c.1691C>G
ENST00000645744.1:c.*4188C>G	ENSP00000494564.1:n.*4188C>G
ENST00000645760.1:c.4924C>G
ENST00000645884.1:c.*1786C>G	ENSP00000495516.1:n.*1786C>G
ENST00000646003.1:c.*2525C>G	ENSP00000495259.1:n.*2525C>G
ENST00000646207.1:c.*3340C>G	ENSP00000495025.1:n.*3340C>G
ENST00000646276.1:c.*3907C>G	ENSP00000496070.1:n.*3907C>G
ENST00000646592.1:c.3809C>G
ENST00000646902.1:c.4470C>G	ENSP00000494101.1:p.Ile1490Met
ENST00000646993.1:c.*2941C>G	ENSP00000493720.1:n.*2941C>G
ENST00000647013.1:c.4509C>G	ENSP00000496741.1:n.4509C>G
ENST00000647015.1:c.4254C>G	ENSP00000495389.1:p.Ile1418Met
ENST00000647086.1:c.*4089C>G	ENSP00000493677.1:n.*4089C>G
ENST00000647158.1:c.*2790C>G	ENSP00000495744.1:n.*2790C>G
ENST00000302539.8:c.4506C>G	ENSP00000303960.4:p.Ile1502Met
ENST00000389817.7:c.4503C>G	ENSP00000374467.3:p.Ile1501Met
ENST00000525022.1:n.398C>G
ENST00000526037.5:n.263C>G
ENST00000526168.5:c.291C>G
ENST00000531642.5:c.534C>G
NM_000352.4:c.4503C>G	NP_000343.2:p.Ile1501Met
NM_001287174.1:c.4506C>G	NP_001274103.1:p.Ile1502Met
XM_011520331.1:c.4503C>G	XP_011518633.1:p.Ile1501Met
XM_011520332.1:c.4402C>G	XP_011518634.1:p.Leu1468Val
XM_011520333.1:c.3003C>G	XP_011518635.1:p.Ile1001Met
XR_930890.1:n.4465C>G
NM_001351295.1:c.4569C>G	NP_001338224.1:p.Ile1523Met
NM_001351296.1:c.4503C>G	NP_001338225.1:p.Ile1501Met
NM_001351297.1:c.4500C>G	NP_001338226.1:p.Ile1500Met
NR_147094.1:n.4798C>G
XM_017018197.2:c.4572C>G	XP_016873686.1:p.Ile1524Met
XM_017018199.1:c.4569C>G	XP_016873688.1:p.Ile1523Met
XM_017018201.2:c.4468C>G	XP_016873690.1:p.Leu1490Val
XM_017018202.1:c.3069C>G	XP_016873691.1:p.Ile1023Met
XM_017018204.1:c.2460C>G	XP_016873693.1:p.Ile820Met
XM_024448668.1:c.2871C>G	XP_024304436.1:p.Ile957Met
XR_001747945.2:n.4540C>G
XR_001747946.2:n.4471C>G
XR_002957189.1:n.6254C>G
NM_000352.6:c.4503C>G MANE Select	NP_000343.2:p.Ile1501Met
NM_001287174.2:c.4506C>G	NP_001274103.1:p.Ile1502Met
NM_001351295.2:c.4569C>G	NP_001338224.1:p.Ile1523Met
NM_001351296.2:c.4503C>G	NP_001338225.1:p.Ile1501Met
NM_001351297.2:c.4500C>G	NP_001338226.1:p.Ile1500Met
NR_147094.2:n.4798C>G
NM_001287174.3:c.4506C>G	NP_001274103.1:p.Ile1502Met