Canonical Allele Identifier: CA379799663

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426211G>C (hg19) ; chr11:g.17404664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404664G>C , CM000673.2:g.17404664G>C	GRCh38
NC_000011.9:g.17426211G>C , CM000673.1:g.17426211G>C	GRCh37
NC_000011.8:g.17382787G>C	NCBI36
NG_008867.1:g.77239C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2974C>G
ENST00000529967.6:n.1744C>G
ENST00000532220.2:n.1137C>G
ENST00000642611.2:n.3474C>G
ENST00000645004.2:n.904C>G
ENST00000682051.1:n.3421C>G
ENST00000682110.1:n.3474C>G
ENST00000682140.1:c.3402C>G	ENSP00000507829.1:p.Ile1134Met
ENST00000682185.1:n.4710C>G
ENST00000682204.1:c.*1543C>G	ENSP00000507094.1:n.*1543C>G
ENST00000682215.1:n.3471C>G
ENST00000682288.1:c.*1836C>G	ENSP00000507506.1:n.*1836C>G
ENST00000682442.1:n.3694C>G
ENST00000682528.1:n.3551C>G
ENST00000682673.1:n.3418C>G
ENST00000682805.1:n.3471C>G
ENST00000682965.1:c.3396+830C>G	ENSP00000508229.1:n.3396+830C>G
ENST00000683093.1:n.3573C>G
ENST00000683136.1:c.3402C>G	ENSP00000507768.1:p.Ile1134Met
ENST00000683153.1:n.3630C>G
ENST00000683365.1:n.3576C>G
ENST00000683377.1:n.3474C>G
ENST00000683456.1:c.*542C>G	ENSP00000508318.1:n.*542C>G
ENST00000683522.1:n.3474C>G
ENST00000683562.1:c.*1574C>G	ENSP00000508265.1:n.*1574C>G
ENST00000683693.1:n.3551C>G
ENST00000683725.1:c.3405C>G	ENSP00000507496.1:p.Ile1135Met
ENST00000684010.1:n.3469C>G
ENST00000684157.1:n.3474C>G
ENST00000684253.1:n.3377C>G
ENST00000684288.1:c.*1577C>G	ENSP00000507143.1:n.*1577C>G
ENST00000684313.1:n.2906C>G
ENST00000684332.1:n.3547C>G
ENST00000684371.1:n.3580C>G
ENST00000684404.1:n.3517C>G
ENST00000684442.1:n.3474C>G
ENST00000684555.1:c.*1617C>G	ENSP00000507705.1:n.*1617C>G
ENST00000684571.1:c.3246C>G	ENSP00000506935.1:p.Ile1082Met
ENST00000684593.1:c.*3110C>G	ENSP00000507005.1:n.*3110C>G
ENST00000684711.1:c.*1801C>G	ENSP00000506841.1:n.*1801C>G
ENST00000302539.9:c.3408C>G	ENSP00000303960.4:p.Ile1136Met
ENST00000389817.8:c.3405C>G MANE Select	ENSP00000374467.4:p.Ile1135Met
ENST00000642271.1:c.3402C>G	ENSP00000493749.1:p.Ile1134Met
ENST00000642579.1:c.1489C>G
ENST00000642611.1:n.3359C>G
ENST00000642902.1:c.3187C>G
ENST00000643260.1:c.3405C>G	ENSP00000494450.1:p.Ile1135Met
ENST00000643562.1:c.*1381C>G	ENSP00000496124.1:n.*1381C>G
ENST00000643925.1:c.1529C>G
ENST00000644447.1:c.1761C>G	ENSP00000496282.1:p.Ile587Met
ENST00000644484.1:c.*1660C>G	ENSP00000493558.1:n.*1660C>G
ENST00000644675.1:c.*1577C>G	ENSP00000494567.1:n.*1577C>G
ENST00000644757.1:c.*1690C>G	ENSP00000495085.1:n.*1690C>G
ENST00000644772.1:c.3471C>G	ENSP00000494321.1:p.Ile1157Met
ENST00000645004.1:n.544C>G
ENST00000645076.1:c.2604C>G
ENST00000645417.1:c.571C>G
ENST00000645744.1:c.*1669C>G	ENSP00000494564.1:n.*1669C>G
ENST00000645760.1:c.3680C>G
ENST00000645884.1:c.*542C>G	ENSP00000495516.1:n.*542C>G
ENST00000646003.1:c.*1361C>G	ENSP00000495259.1:n.*1361C>G
ENST00000646207.1:c.*1872C>G	ENSP00000495025.1:n.*1872C>G
ENST00000646276.1:c.*1678C>G	ENSP00000496070.1:n.*1678C>G
ENST00000646592.1:c.2711C>G
ENST00000646902.1:c.3402C>G	ENSP00000494101.1:p.Ile1134Met
ENST00000646993.1:c.*1801C>G	ENSP00000493720.1:n.*1801C>G
ENST00000647013.1:c.3411C>G	ENSP00000496741.1:n.3411C>G
ENST00000647015.1:c.3156C>G	ENSP00000495389.1:p.Ile1052Met
ENST00000647086.1:c.*3135C>G	ENSP00000493677.1:n.*3135C>G
ENST00000647158.1:c.*1546C>G	ENSP00000495744.1:n.*1546C>G
ENST00000302539.8:c.3408C>G	ENSP00000303960.4:p.Ile1136Met
ENST00000389817.7:c.3405C>G	ENSP00000374467.3:p.Ile1135Met
ENST00000524561.1:n.537C>G
ENST00000527905.5:c.*281C>G	ENSP00000431653.1:n.*281C>G
NM_000352.4:c.3405C>G	NP_000343.2:p.Ile1135Met
NM_001287174.1:c.3408C>G	NP_001274103.1:p.Ile1136Met
XM_011520331.1:c.3405C>G	XP_011518633.1:p.Ile1135Met
XM_011520332.1:c.3408C>G	XP_011518634.1:p.Ile1136Met
XM_011520333.1:c.1905C>G	XP_011518635.1:p.Ile635Met
XR_930890.1:n.3471C>G
XR_930891.1:n.3472C>G
XR_930892.1:n.3371C>G
XR_930893.1:n.3368C>G
NM_001351295.1:c.3471C>G	NP_001338224.1:p.Ile1157Met
NM_001351296.1:c.3405C>G	NP_001338225.1:p.Ile1135Met
NM_001351297.1:c.3402C>G	NP_001338226.1:p.Ile1134Met
NR_147094.1:n.3554C>G
XM_017018197.2:c.3474C>G	XP_016873686.1:p.Ile1158Met
XM_017018199.1:c.3471C>G	XP_016873688.1:p.Ile1157Met
XM_017018201.2:c.3474C>G	XP_016873690.1:p.Ile1158Met
XM_017018202.1:c.1971C>G	XP_016873691.1:p.Ile657Met
XM_017018204.1:c.1362C>G	XP_016873693.1:p.Ile454Met
XM_024448668.1:c.1773C>G	XP_024304436.1:p.Ile591Met
XR_001747945.2:n.3546C>G
XR_001747946.2:n.3477C>G
XR_002957189.1:n.3626C>G
NM_000352.6:c.3405C>G MANE Select	NP_000343.2:p.Ile1135Met
NM_001287174.2:c.3408C>G	NP_001274103.1:p.Ile1136Met
NM_001351295.2:c.3471C>G	NP_001338224.1:p.Ile1157Met
NM_001351296.2:c.3405C>G	NP_001338225.1:p.Ile1135Met
NM_001351297.2:c.3402C>G	NP_001338226.1:p.Ile1134Met
NR_147094.2:n.3554C>G
NM_001287174.3:c.3408C>G	NP_001274103.1:p.Ile1136Met