Canonical Allele Identifier: CA379790778

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418540T>A (hg19) ; chr11:g.17396993T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396993T>A , CM000673.2:g.17396993T>A	GRCh38
NC_000011.9:g.17418540T>A , CM000673.1:g.17418540T>A	GRCh37
NC_000011.8:g.17375116T>A	NCBI36
NG_008867.1:g.84910A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3643A>T
ENST00000528374.2:c.633A>T
ENST00000529967.6:n.2381A>T
ENST00000532220.2:n.2290A>T
ENST00000642611.2:n.4257A>T
ENST00000644057.2:n.485A>T
ENST00000645004.2:n.1541A>T
ENST00000682051.1:n.4204A>T
ENST00000682110.1:n.4257A>T
ENST00000682140.1:c.3985+200A>T	ENSP00000507829.1:n.3985+200A>T
ENST00000682185.1:n.5347A>T
ENST00000682204.1:c.*2180A>T	ENSP00000507094.1:n.*2180A>T
ENST00000682215.1:n.4624A>T
ENST00000682288.1:c.*2473A>T	ENSP00000507506.1:n.*2473A>T
ENST00000682442.1:n.4477A>T
ENST00000682528.1:n.4334A>T
ENST00000682673.1:n.4201A>T
ENST00000682805.1:n.4624A>T
ENST00000682965.1:c.*464A>T	ENSP00000508229.1:n.*464A>T
ENST00000683093.1:n.4356A>T
ENST00000683136.1:c.3925A>T	ENSP00000507768.1:p.Asn1309Tyr
ENST00000683153.1:n.4299A>T
ENST00000683365.1:n.4359A>T
ENST00000683377.1:n.4257A>T
ENST00000683456.1:c.*1179A>T	ENSP00000508318.1:n.*1179A>T
ENST00000683522.1:n.4257A>T
ENST00000683562.1:c.*2211A>T	ENSP00000508265.1:n.*2211A>T
ENST00000683693.1:n.4704A>T
ENST00000683725.1:c.4042A>T	ENSP00000507496.1:p.Asn1348Tyr
ENST00000684010.1:n.4252A>T
ENST00000684157.1:n.4257A>T
ENST00000684253.1:n.4160A>T
ENST00000684288.1:c.*2214A>T	ENSP00000507143.1:n.*2214A>T
ENST00000684313.1:n.3689A>T
ENST00000684332.1:n.4330A>T
ENST00000684371.1:n.4363A>T
ENST00000684404.1:n.4300A>T
ENST00000684442.1:n.4481A>T
ENST00000684555.1:c.*2254A>T	ENSP00000507705.1:n.*2254A>T
ENST00000684571.1:c.3883A>T	ENSP00000506935.1:p.Asn1295Tyr
ENST00000684593.1:c.*3747A>T	ENSP00000507005.1:n.*3747A>T
ENST00000684711.1:c.*2438A>T	ENSP00000506841.1:n.*2438A>T
ENST00000302539.9:c.4045A>T	ENSP00000303960.4:p.Asn1349Tyr
ENST00000389817.8:c.4042A>T MANE Select	ENSP00000374467.4:p.Asn1348Tyr
ENST00000642271.1:c.4039A>T	ENSP00000493749.1:p.Asn1347Tyr
ENST00000642579.1:c.2096A>T
ENST00000642611.1:n.4142A>T
ENST00000642902.1:c.3824A>T
ENST00000643260.1:c.4042A>T	ENSP00000494450.1:p.Asn1348Tyr
ENST00000643562.1:c.*2164A>T	ENSP00000496124.1:n.*2164A>T
ENST00000643925.1:c.2682A>T
ENST00000644057.1:n.119A>T
ENST00000644484.1:c.*2443A>T	ENSP00000493558.1:n.*2443A>T
ENST00000644675.1:c.*2214A>T	ENSP00000494567.1:n.*2214A>T
ENST00000644757.1:c.*2473A>T	ENSP00000495085.1:n.*2473A>T
ENST00000644772.1:c.4108A>T	ENSP00000494321.1:p.Asn1370Tyr
ENST00000645004.1:n.1697A>T
ENST00000645076.1:c.3241A>T
ENST00000645417.1:c.1230A>T
ENST00000645744.1:c.*2822A>T	ENSP00000494564.1:n.*2822A>T
ENST00000645760.1:c.4463A>T
ENST00000645884.1:c.*1325A>T	ENSP00000495516.1:n.*1325A>T
ENST00000646003.1:c.*2144A>T	ENSP00000495259.1:n.*2144A>T
ENST00000646207.1:c.*2879A>T	ENSP00000495025.1:n.*2879A>T
ENST00000646276.1:c.*2461A>T	ENSP00000496070.1:n.*2461A>T
ENST00000646592.1:c.3348A>T
ENST00000646902.1:c.4009A>T	ENSP00000494101.1:p.Asn1337Tyr
ENST00000646993.1:c.*2584A>T	ENSP00000493720.1:n.*2584A>T
ENST00000647013.1:c.4048A>T	ENSP00000496741.1:n.4048A>T
ENST00000647015.1:c.3793A>T	ENSP00000495389.1:p.Asn1265Tyr
ENST00000647086.1:c.*3628A>T	ENSP00000493677.1:n.*3628A>T
ENST00000647158.1:c.*2329A>T	ENSP00000495744.1:n.*2329A>T
ENST00000302539.8:c.4045A>T	ENSP00000303960.4:p.Asn1349Tyr
ENST00000389817.7:c.4042A>T	ENSP00000374467.3:p.Asn1348Tyr
ENST00000527905.5:c.*1064A>T	ENSP00000431653.1:n.*1064A>T
ENST00000528374.1:c.524A>T
ENST00000531137.1:n.607A>T
ENST00000531891.1:c.380A>T
ENST00000532220.1:n.516A>T
NM_000352.4:c.4042A>T	NP_000343.2:p.Asn1348Tyr
NM_001287174.1:c.4045A>T	NP_001274103.1:p.Asn1349Tyr
XM_011520331.1:c.4042A>T	XP_011518633.1:p.Asn1348Tyr
XM_011520332.1:c.4045A>T	XP_011518634.1:p.Asn1349Tyr
XM_011520333.1:c.2542A>T	XP_011518635.1:p.Asn848Tyr
XR_930890.1:n.4108A>T
NM_001351295.1:c.4108A>T	NP_001338224.1:p.Asn1370Tyr
NM_001351296.1:c.4042A>T	NP_001338225.1:p.Asn1348Tyr
NM_001351297.1:c.4039A>T	NP_001338226.1:p.Asn1347Tyr
NR_147094.1:n.4337A>T
XM_017018197.2:c.4111A>T	XP_016873686.1:p.Asn1371Tyr
XM_017018199.1:c.4108A>T	XP_016873688.1:p.Asn1370Tyr
XM_017018201.2:c.4111A>T	XP_016873690.1:p.Asn1371Tyr
XM_017018202.1:c.2608A>T	XP_016873691.1:p.Asn870Tyr
XM_017018204.1:c.1999A>T	XP_016873693.1:p.Asn667Tyr
XM_024448668.1:c.2410A>T	XP_024304436.1:p.Asn804Tyr
XR_001747945.2:n.4183A>T
XR_001747946.2:n.4114A>T
XR_002957189.1:n.4779A>T
NM_000352.6:c.4042A>T MANE Select	NP_000343.2:p.Asn1348Tyr
NM_001287174.2:c.4045A>T	NP_001274103.1:p.Asn1349Tyr
NM_001351295.2:c.4108A>T	NP_001338224.1:p.Asn1370Tyr
NM_001351296.2:c.4042A>T	NP_001338225.1:p.Asn1348Tyr
NM_001351297.2:c.4039A>T	NP_001338226.1:p.Asn1347Tyr
NR_147094.2:n.4337A>T
NM_001287174.3:c.4045A>T	NP_001274103.1:p.Asn1349Tyr