Canonical Allele Identifier: CA379790352

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418489T>G (hg19) ; chr11:g.17396942T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396942T>G , CM000673.2:g.17396942T>G	GRCh38
NC_000011.9:g.17418489T>G , CM000673.1:g.17418489T>G	GRCh37
NC_000011.8:g.17375065T>G	NCBI36
NG_008867.1:g.84961A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3694A>C
ENST00000528374.2:c.684A>C
ENST00000529967.6:n.2432A>C
ENST00000532220.2:n.2341A>C
ENST00000642611.2:n.4308A>C
ENST00000644057.2:n.536A>C
ENST00000645004.2:n.1592A>C
ENST00000682051.1:n.4255A>C
ENST00000682110.1:n.4308A>C
ENST00000682140.1:c.3985+251A>C	ENSP00000507829.1:n.3985+251A>C
ENST00000682185.1:n.5398A>C
ENST00000682204.1:c.*2231A>C	ENSP00000507094.1:n.*2231A>C
ENST00000682215.1:n.4675A>C
ENST00000682288.1:c.*2524A>C	ENSP00000507506.1:n.*2524A>C
ENST00000682442.1:n.4528A>C
ENST00000682528.1:n.4385A>C
ENST00000682673.1:n.4252A>C
ENST00000682805.1:n.4675A>C
ENST00000682965.1:c.*515A>C	ENSP00000508229.1:n.*515A>C
ENST00000683093.1:n.4407A>C
ENST00000683136.1:c.3976A>C	ENSP00000507768.1:p.Asn1326His
ENST00000683153.1:n.4350A>C
ENST00000683365.1:n.4410A>C
ENST00000683377.1:n.4308A>C
ENST00000683456.1:c.*1230A>C	ENSP00000508318.1:n.*1230A>C
ENST00000683522.1:n.4308A>C
ENST00000683562.1:c.*2262A>C	ENSP00000508265.1:n.*2262A>C
ENST00000683693.1:n.4755A>C
ENST00000683725.1:c.4093A>C	ENSP00000507496.1:p.Asn1365His
ENST00000684010.1:n.4303A>C
ENST00000684157.1:n.4308A>C
ENST00000684253.1:n.4211A>C
ENST00000684288.1:c.*2265A>C	ENSP00000507143.1:n.*2265A>C
ENST00000684313.1:n.3740A>C
ENST00000684332.1:n.4381A>C
ENST00000684371.1:n.4414A>C
ENST00000684404.1:n.4351A>C
ENST00000684442.1:n.4532A>C
ENST00000684555.1:c.*2305A>C	ENSP00000507705.1:n.*2305A>C
ENST00000684571.1:c.3934A>C	ENSP00000506935.1:p.Asn1312His
ENST00000684593.1:c.*3798A>C	ENSP00000507005.1:n.*3798A>C
ENST00000684711.1:c.*2489A>C	ENSP00000506841.1:n.*2489A>C
ENST00000302539.9:c.4096A>C	ENSP00000303960.4:p.Asn1366His
ENST00000389817.8:c.4093A>C MANE Select	ENSP00000374467.4:p.Asn1365His
ENST00000642271.1:c.4090A>C	ENSP00000493749.1:p.Asn1364His
ENST00000642579.1:c.2147A>C
ENST00000642611.1:n.4193A>C
ENST00000642902.1:c.3875A>C
ENST00000643260.1:c.4093A>C	ENSP00000494450.1:p.Asn1365His
ENST00000643562.1:c.*2215A>C	ENSP00000496124.1:n.*2215A>C
ENST00000643925.1:c.2733A>C
ENST00000644057.1:n.170A>C
ENST00000644484.1:c.*2494A>C	ENSP00000493558.1:n.*2494A>C
ENST00000644675.1:c.*2265A>C	ENSP00000494567.1:n.*2265A>C
ENST00000644757.1:c.*2524A>C	ENSP00000495085.1:n.*2524A>C
ENST00000644772.1:c.4159A>C	ENSP00000494321.1:p.Asn1387His
ENST00000645004.1:n.1748A>C
ENST00000645076.1:c.3292A>C
ENST00000645417.1:c.1281A>C
ENST00000645744.1:c.*2873A>C	ENSP00000494564.1:n.*2873A>C
ENST00000645760.1:c.4514A>C
ENST00000645884.1:c.*1376A>C	ENSP00000495516.1:n.*1376A>C
ENST00000646003.1:c.*2195A>C	ENSP00000495259.1:n.*2195A>C
ENST00000646207.1:c.*2930A>C	ENSP00000495025.1:n.*2930A>C
ENST00000646276.1:c.*2512A>C	ENSP00000496070.1:n.*2512A>C
ENST00000646592.1:c.3399A>C
ENST00000646902.1:c.4060A>C	ENSP00000494101.1:p.Asn1354His
ENST00000646993.1:c.*2635A>C	ENSP00000493720.1:n.*2635A>C
ENST00000647013.1:c.4099A>C	ENSP00000496741.1:n.4099A>C
ENST00000647015.1:c.3844A>C	ENSP00000495389.1:p.Asn1282His
ENST00000647086.1:c.*3679A>C	ENSP00000493677.1:n.*3679A>C
ENST00000647158.1:c.*2380A>C	ENSP00000495744.1:n.*2380A>C
ENST00000302539.8:c.4096A>C	ENSP00000303960.4:p.Asn1366His
ENST00000389817.7:c.4093A>C	ENSP00000374467.3:p.Asn1365His
ENST00000527905.5:c.*1115A>C	ENSP00000431653.1:n.*1115A>C
ENST00000528374.1:c.575A>C
ENST00000531137.1:n.658A>C
ENST00000531891.1:c.431A>C
ENST00000532220.1:n.567A>C
NM_000352.4:c.4093A>C	NP_000343.2:p.Asn1365His
NM_001287174.1:c.4096A>C	NP_001274103.1:p.Asn1366His
XM_011520331.1:c.4093A>C	XP_011518633.1:p.Asn1365His
XM_011520332.1:c.4096A>C	XP_011518634.1:p.Asn1366His
XM_011520333.1:c.2593A>C	XP_011518635.1:p.Asn865His
XR_930890.1:n.4159A>C
NM_001351295.1:c.4159A>C	NP_001338224.1:p.Asn1387His
NM_001351296.1:c.4093A>C	NP_001338225.1:p.Asn1365His
NM_001351297.1:c.4090A>C	NP_001338226.1:p.Asn1364His
NR_147094.1:n.4388A>C
XM_017018197.2:c.4162A>C	XP_016873686.1:p.Asn1388His
XM_017018199.1:c.4159A>C	XP_016873688.1:p.Asn1387His
XM_017018201.2:c.4162A>C	XP_016873690.1:p.Asn1388His
XM_017018202.1:c.2659A>C	XP_016873691.1:p.Asn887His
XM_017018204.1:c.2050A>C	XP_016873693.1:p.Asn684His
XM_024448668.1:c.2461A>C	XP_024304436.1:p.Asn821His
XR_001747945.2:n.4234A>C
XR_001747946.2:n.4165A>C
XR_002957189.1:n.4830A>C
NM_000352.6:c.4093A>C MANE Select	NP_000343.2:p.Asn1365His
NM_001287174.2:c.4096A>C	NP_001274103.1:p.Asn1366His
NM_001351295.2:c.4159A>C	NP_001338224.1:p.Asn1387His
NM_001351296.2:c.4093A>C	NP_001338225.1:p.Asn1365His
NM_001351297.2:c.4090A>C	NP_001338226.1:p.Asn1364His
NR_147094.2:n.4388A>C
NM_001287174.3:c.4096A>C	NP_001274103.1:p.Asn1366His