Canonical Allele Identifier: CA379816943

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17452403A>C (hg19) ; chr11:g.17430856A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17430856A>C , CM000673.2:g.17430856A>C	GRCh38
NC_000011.9:g.17452403A>C , CM000673.1:g.17452403A>C	GRCh37
NC_000011.8:g.17408979A>C	NCBI36
NG_008867.1:g.51047T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1412T>G
ENST00000526002.2:n.1802T>G
ENST00000528202.6:n.1914T>G
ENST00000642611.2:n.1841T>G
ENST00000682051.1:n.1788T>G
ENST00000682110.1:n.1841T>G
ENST00000682140.1:c.1772T>G	ENSP00000507829.1:p.Leu591Arg
ENST00000682185.1:n.3080T>G
ENST00000682204.1:c.1668+1348T>G	ENSP00000507094.1:n.1668+1348T>G
ENST00000682215.1:n.1841T>G
ENST00000682288.1:c.*171T>G	ENSP00000507506.1:n.*171T>G
ENST00000682442.1:n.1962T>G
ENST00000682528.1:n.1841T>G
ENST00000682673.1:n.1788T>G
ENST00000682805.1:n.1841T>G
ENST00000682965.1:c.1772T>G	ENSP00000508229.1:p.Leu591Arg
ENST00000683093.1:n.1943T>G
ENST00000683136.1:c.1772T>G	ENSP00000507768.1:p.Leu591Arg
ENST00000683153.1:n.1841T>G
ENST00000683253.1:n.2857T>G
ENST00000683365.1:n.1943T>G
ENST00000683377.1:n.1841T>G
ENST00000683456.1:c.1772T>G	ENSP00000508318.1:p.Leu591Arg
ENST00000683522.1:n.1841T>G
ENST00000683531.1:n.1844T>G
ENST00000683562.1:c.1775T>G	ENSP00000508265.1:p.Leu592Arg
ENST00000683693.1:n.1841T>G
ENST00000683725.1:c.1775T>G	ENSP00000507496.1:p.Leu592Arg
ENST00000684010.1:n.1841T>G
ENST00000684157.1:n.1841T>G
ENST00000684253.1:n.1789+1348T>G
ENST00000684288.1:c.1775T>G	ENSP00000507143.1:p.Leu592Arg
ENST00000684313.1:n.1723+11864T>G
ENST00000684332.1:n.1914T>G
ENST00000684371.1:n.1788T>G
ENST00000684404.1:n.1841T>G
ENST00000684442.1:n.1841T>G
ENST00000684555.1:c.1671+1348T>G	ENSP00000507705.1:n.1671+1348T>G
ENST00000684571.1:c.1616T>G	ENSP00000506935.1:p.Leu539Arg
ENST00000684593.1:c.*1480T>G	ENSP00000507005.1:n.*1480T>G
ENST00000684711.1:c.*171T>G	ENSP00000506841.1:n.*171T>G
ENST00000302539.9:c.1775T>G	ENSP00000303960.4:p.Leu592Arg
ENST00000389817.8:c.1775T>G MANE Select	ENSP00000374467.4:p.Leu592Arg
ENST00000532728.6:c.1398+1348T>G
ENST00000635881.1:n.1803T>G
ENST00000642271.1:c.1772T>G	ENSP00000493749.1:p.Leu591Arg
ENST00000642611.1:n.1726T>G
ENST00000642902.1:c.1652+1348T>G
ENST00000643260.1:c.1772T>G	ENSP00000494450.1:p.Leu591Arg
ENST00000643562.1:c.1775T>G	ENSP00000496124.1:p.Leu592Arg
ENST00000644447.1:c.128T>G	ENSP00000496282.1:p.Leu43Arg
ENST00000644472.1:c.*136T>G	ENSP00000495378.1:n.*136T>G
ENST00000644484.1:c.1668+1348T>G	ENSP00000493558.1:n.1668+1348T>G
ENST00000644542.1:c.*1477T>G	ENSP00000495532.1:n.*1477T>G
ENST00000644649.1:c.945T>G
ENST00000644675.1:c.1772T>G	ENSP00000494567.1:p.Leu591Arg
ENST00000644757.1:c.*87+1348T>G	ENSP00000495085.1:n.*87+1348T>G
ENST00000644772.1:c.1775T>G	ENSP00000494321.1:p.Leu592Arg
ENST00000645076.1:c.1057T>G
ENST00000645744.1:c.*136T>G	ENSP00000494564.1:n.*136T>G
ENST00000645760.1:c.2050T>G
ENST00000645884.1:c.1772T>G	ENSP00000495516.1:p.Leu591Arg
ENST00000646003.1:c.1668+1348T>G	ENSP00000495259.1:n.1668+1348T>G
ENST00000646207.1:c.*136T>G	ENSP00000495025.1:n.*136T>G
ENST00000646276.1:c.*87+1348T>G	ENSP00000496070.1:n.*87+1348T>G
ENST00000646592.1:c.882-2186T>G
ENST00000646902.1:c.1772T>G	ENSP00000494101.1:p.Leu591Arg
ENST00000646993.1:c.*171T>G	ENSP00000493720.1:n.*171T>G
ENST00000647013.1:c.1746T>G	ENSP00000496741.1:n.1746T>G
ENST00000647015.1:c.1671+1348T>G	ENSP00000495389.1:n.1671+1348T>G
ENST00000647086.1:c.1772T>G	ENSP00000493677.1:p.Leu591Arg
ENST00000647158.1:c.1668+1348T>G	ENSP00000495744.1:n.1668+1348T>G
ENST00000302539.8:c.1775T>G	ENSP00000303960.4:p.Leu592Arg
ENST00000389817.7:c.1775T>G	ENSP00000374467.3:p.Leu592Arg
ENST00000526002.1:n.564T>G
ENST00000527905.5:c.1775T>G	ENSP00000431653.1:p.Leu592Arg
ENST00000528202.5:n.290T>G
ENST00000532728.5:n.1806T>G
NM_000352.4:c.1775T>G	NP_000343.2:p.Leu592Arg
NM_001287174.1:c.1775T>G	NP_001274103.1:p.Leu592Arg
XM_011520331.1:c.1772T>G	XP_011518633.1:p.Leu591Arg
XM_011520332.1:c.1775T>G	XP_011518634.1:p.Leu592Arg
XM_011520333.1:c.272T>G	XP_011518635.1:p.Leu91Arg
XM_011520334.1:c.1775T>G	XP_011518636.1:p.Leu592Arg
XR_930890.1:n.1838T>G
XR_930891.1:n.1838T>G
XR_930892.1:n.1838T>G
XR_930893.1:n.1838T>G
NM_001351295.1:c.1775T>G	NP_001338224.1:p.Leu592Arg
NM_001351296.1:c.1772T>G	NP_001338225.1:p.Leu591Arg
NM_001351297.1:c.1772T>G	NP_001338226.1:p.Leu591Arg
NR_147094.1:n.1841T>G
XM_017018197.2:c.1775T>G	XP_016873686.1:p.Leu592Arg
XM_017018199.1:c.1772T>G	XP_016873688.1:p.Leu591Arg
XM_017018201.2:c.1775T>G	XP_016873690.1:p.Leu592Arg
XM_017018202.1:c.272T>G	XP_016873691.1:p.Leu91Arg
XM_017018204.1:c.-269T>G	XP_016873693.1:n.-269T>G
XM_024448668.1:c.140T>G	XP_024304436.1:p.Leu47Arg
XR_001747945.2:n.1847T>G
XR_001747946.2:n.1847T>G
XR_002957189.1:n.1847T>G
NM_000352.6:c.1775T>G MANE Select	NP_000343.2:p.Leu592Arg
NM_001287174.2:c.1775T>G	NP_001274103.1:p.Leu592Arg
NM_001351295.2:c.1775T>G	NP_001338224.1:p.Leu592Arg
NM_001351296.2:c.1772T>G	NP_001338225.1:p.Leu591Arg
NM_001351297.2:c.1772T>G	NP_001338226.1:p.Leu591Arg
NR_147094.2:n.1841T>G
NM_001287174.3:c.1775T>G	NP_001274103.1:p.Leu592Arg