Canonical Allele Identifier: CA379815192

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449873G>T (hg19) ; chr11:g.17428326G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428326G>T , CM000673.2:g.17428326G>T	GRCh38
NC_000011.9:g.17449873G>T , CM000673.1:g.17449873G>T	GRCh37
NC_000011.8:g.17406449G>T	NCBI36
NG_008867.1:g.53577C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1672C>A
ENST00000529967.6:n.262C>A
ENST00000642611.2:n.2069C>A
ENST00000682051.1:n.2016C>A
ENST00000682110.1:n.2069C>A
ENST00000682140.1:c.2000C>A	ENSP00000507829.1:p.Pro667His
ENST00000682185.1:n.3308C>A
ENST00000682204.1:c.*141C>A	ENSP00000507094.1:n.*141C>A
ENST00000682215.1:n.2069C>A
ENST00000682288.1:c.*431C>A	ENSP00000507506.1:n.*431C>A
ENST00000682442.1:n.2190C>A
ENST00000682528.1:n.2069C>A
ENST00000682673.1:n.2016C>A
ENST00000682805.1:n.2069C>A
ENST00000682965.1:c.2000C>A	ENSP00000508229.1:p.Pro667His
ENST00000683093.1:n.2171C>A
ENST00000683136.1:c.2000C>A	ENSP00000507768.1:p.Pro667His
ENST00000683153.1:n.2228C>A
ENST00000683253.1:n.3085C>A
ENST00000683365.1:n.2171C>A
ENST00000683377.1:n.2069C>A
ENST00000683456.1:c.2000C>A	ENSP00000508318.1:p.Pro667His
ENST00000683522.1:n.2069C>A
ENST00000683562.1:c.*172C>A	ENSP00000508265.1:n.*172C>A
ENST00000683693.1:n.2069C>A
ENST00000683725.1:c.2003C>A	ENSP00000507496.1:p.Pro668His
ENST00000684010.1:n.2069C>A
ENST00000684157.1:n.2069C>A
ENST00000684253.1:n.1975C>A
ENST00000684288.1:c.*172C>A	ENSP00000507143.1:n.*172C>A
ENST00000684313.1:n.1724-11364C>A
ENST00000684332.1:n.2142C>A
ENST00000684371.1:n.2175C>A
ENST00000684404.1:n.2069C>A
ENST00000684442.1:n.2069C>A
ENST00000684555.1:c.*212C>A	ENSP00000507705.1:n.*212C>A
ENST00000684571.1:c.1844C>A	ENSP00000506935.1:p.Pro615His
ENST00000684593.1:c.*1708C>A	ENSP00000507005.1:n.*1708C>A
ENST00000684711.1:c.*399C>A	ENSP00000506841.1:n.*399C>A
ENST00000302539.9:c.2003C>A	ENSP00000303960.4:p.Pro668His
ENST00000389817.8:c.2003C>A MANE Select	ENSP00000374467.4:p.Pro668His
ENST00000532728.6:c.1584C>A
ENST00000642271.1:c.2000C>A	ENSP00000493749.1:p.Pro667His
ENST00000642579.1:c.84C>A
ENST00000642611.1:n.1954C>A
ENST00000642902.1:c.1838C>A
ENST00000643260.1:c.2000C>A	ENSP00000494450.1:p.Pro667His
ENST00000643562.1:c.1995C>A	ENSP00000496124.1:p.Pro665=
ENST00000644447.1:c.356C>A	ENSP00000496282.1:p.Pro119His
ENST00000644472.1:c.*364C>A	ENSP00000495378.1:n.*364C>A
ENST00000644484.1:c.*212C>A	ENSP00000493558.1:n.*212C>A
ENST00000644542.1:c.*1705C>A	ENSP00000495532.1:n.*1705C>A
ENST00000644649.1:c.1173C>A
ENST00000644675.1:c.*172C>A	ENSP00000494567.1:n.*172C>A
ENST00000644757.1:c.*305C>A	ENSP00000495085.1:n.*305C>A
ENST00000644772.1:c.2069C>A	ENSP00000494321.1:p.Pro690His
ENST00000645076.1:c.1255C>A
ENST00000645744.1:c.*364C>A	ENSP00000494564.1:n.*364C>A
ENST00000645760.1:c.2278C>A
ENST00000645884.1:c.2000C>A	ENSP00000495516.1:p.Pro667His
ENST00000646003.1:c.*141C>A	ENSP00000495259.1:n.*141C>A
ENST00000646207.1:c.*364C>A	ENSP00000495025.1:n.*364C>A
ENST00000646276.1:c.*273C>A	ENSP00000496070.1:n.*273C>A
ENST00000646592.1:c.1226C>A
ENST00000646902.1:c.2000C>A	ENSP00000494101.1:p.Pro667His
ENST00000646993.1:c.*399C>A	ENSP00000493720.1:n.*399C>A
ENST00000647013.1:c.2006C>A	ENSP00000496741.1:n.2006C>A
ENST00000647015.1:c.1751C>A	ENSP00000495389.1:p.Pro584His
ENST00000647086.1:c.*1730C>A	ENSP00000493677.1:n.*1730C>A
ENST00000647158.1:c.*141C>A	ENSP00000495744.1:n.*141C>A
ENST00000302539.8:c.2003C>A	ENSP00000303960.4:p.Pro668His
ENST00000389817.7:c.2003C>A	ENSP00000374467.3:p.Pro668His
ENST00000527905.5:c.1973C>A	ENSP00000431653.1:p.Pro658His
NM_000352.4:c.2003C>A	NP_000343.2:p.Pro668His
NM_001287174.1:c.2003C>A	NP_001274103.1:p.Pro668His
XM_011520331.1:c.2000C>A	XP_011518633.1:p.Pro667His
XM_011520332.1:c.2003C>A	XP_011518634.1:p.Pro668His
XM_011520333.1:c.500C>A	XP_011518635.1:p.Pro167His
XM_011520334.1:c.2003C>A	XP_011518636.1:p.Pro668His
XR_930890.1:n.2066C>A
XR_930891.1:n.2066C>A
XR_930892.1:n.2066C>A
XR_930893.1:n.2066C>A
NM_001351295.1:c.2069C>A	NP_001338224.1:p.Pro690His
NM_001351296.1:c.2000C>A	NP_001338225.1:p.Pro667His
NM_001351297.1:c.2000C>A	NP_001338226.1:p.Pro667His
NR_147094.1:n.2069C>A
XM_017018197.2:c.2069C>A	XP_016873686.1:p.Pro690His
XM_017018199.1:c.2066C>A	XP_016873688.1:p.Pro689His
XM_017018201.2:c.2069C>A	XP_016873690.1:p.Pro690His
XM_017018202.1:c.566C>A	XP_016873691.1:p.Pro189His
XM_017018204.1:c.-41C>A	XP_016873693.1:n.-41C>A
XM_024448668.1:c.368C>A	XP_024304436.1:p.Pro123His
XR_001747945.2:n.2141C>A
XR_001747946.2:n.2075C>A
XR_002957189.1:n.2141C>A
NM_000352.6:c.2003C>A MANE Select	NP_000343.2:p.Pro668His
NM_001287174.2:c.2003C>A	NP_001274103.1:p.Pro668His
NM_001351295.2:c.2069C>A	NP_001338224.1:p.Pro690His
NM_001351296.2:c.2000C>A	NP_001338225.1:p.Pro667His
NM_001351297.2:c.2000C>A	NP_001338226.1:p.Pro667His
NR_147094.2:n.2069C>A
NM_001287174.3:c.2003C>A	NP_001274103.1:p.Pro668His