Canonical Allele Identifier: CA379798086

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426135G>A (hg19) ; chr11:g.17404588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404588G>A , CM000673.2:g.17404588G>A	GRCh38
NC_000011.9:g.17426135G>A , CM000673.1:g.17426135G>A	GRCh37
NC_000011.8:g.17382711G>A	NCBI36
NG_008867.1:g.77315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3050C>T
ENST00000528374.2:c.60C>T
ENST00000529967.6:n.1820C>T
ENST00000532220.2:n.1213C>T
ENST00000642611.2:n.3550C>T
ENST00000645004.2:n.980C>T
ENST00000682051.1:n.3497C>T
ENST00000682110.1:n.3550C>T
ENST00000682140.1:c.3478C>T	ENSP00000507829.1:p.Pro1160Ser
ENST00000682185.1:n.4786C>T
ENST00000682204.1:c.*1619C>T	ENSP00000507094.1:n.*1619C>T
ENST00000682215.1:n.3547C>T
ENST00000682288.1:c.*1912C>T	ENSP00000507506.1:n.*1912C>T
ENST00000682442.1:n.3770C>T
ENST00000682528.1:n.3627C>T
ENST00000682673.1:n.3494C>T
ENST00000682805.1:n.3547C>T
ENST00000682965.1:c.3396+906C>T	ENSP00000508229.1:n.3396+906C>T
ENST00000683093.1:n.3649C>T
ENST00000683136.1:c.3478C>T	ENSP00000507768.1:p.Pro1160Ser
ENST00000683153.1:n.3706C>T
ENST00000683365.1:n.3652C>T
ENST00000683377.1:n.3550C>T
ENST00000683456.1:c.*618C>T	ENSP00000508318.1:n.*618C>T
ENST00000683522.1:n.3550C>T
ENST00000683562.1:c.*1650C>T	ENSP00000508265.1:n.*1650C>T
ENST00000683693.1:n.3627C>T
ENST00000683725.1:c.3481C>T	ENSP00000507496.1:p.Pro1161Ser
ENST00000684010.1:n.3545C>T
ENST00000684157.1:n.3550C>T
ENST00000684253.1:n.3453C>T
ENST00000684288.1:c.*1653C>T	ENSP00000507143.1:n.*1653C>T
ENST00000684313.1:n.2982C>T
ENST00000684332.1:n.3623C>T
ENST00000684371.1:n.3656C>T
ENST00000684404.1:n.3593C>T
ENST00000684442.1:n.3550C>T
ENST00000684555.1:c.*1693C>T	ENSP00000507705.1:n.*1693C>T
ENST00000684571.1:c.3322C>T	ENSP00000506935.1:p.Pro1108Ser
ENST00000684593.1:c.*3186C>T	ENSP00000507005.1:n.*3186C>T
ENST00000684711.1:c.*1877C>T	ENSP00000506841.1:n.*1877C>T
ENST00000302539.9:c.3484C>T	ENSP00000303960.4:p.Pro1162Ser
ENST00000389817.8:c.3481C>T MANE Select	ENSP00000374467.4:p.Pro1161Ser
ENST00000642271.1:c.3478C>T	ENSP00000493749.1:p.Pro1160Ser
ENST00000642579.1:c.1565C>T
ENST00000642611.1:n.3435C>T
ENST00000642902.1:c.3263C>T
ENST00000643260.1:c.3481C>T	ENSP00000494450.1:p.Pro1161Ser
ENST00000643562.1:c.*1457C>T	ENSP00000496124.1:n.*1457C>T
ENST00000643925.1:c.1605C>T
ENST00000644447.1:c.1837C>T	ENSP00000496282.1:p.Pro613Ser
ENST00000644484.1:c.*1736C>T	ENSP00000493558.1:n.*1736C>T
ENST00000644675.1:c.*1653C>T	ENSP00000494567.1:n.*1653C>T
ENST00000644757.1:c.*1766C>T	ENSP00000495085.1:n.*1766C>T
ENST00000644772.1:c.3547C>T	ENSP00000494321.1:p.Pro1183Ser
ENST00000645004.1:n.620C>T
ENST00000645076.1:c.2680C>T
ENST00000645417.1:c.647C>T
ENST00000645744.1:c.*1745C>T	ENSP00000494564.1:n.*1745C>T
ENST00000645760.1:c.3756C>T
ENST00000645884.1:c.*618C>T	ENSP00000495516.1:n.*618C>T
ENST00000646003.1:c.*1437C>T	ENSP00000495259.1:n.*1437C>T
ENST00000646207.1:c.*1948C>T	ENSP00000495025.1:n.*1948C>T
ENST00000646276.1:c.*1754C>T	ENSP00000496070.1:n.*1754C>T
ENST00000646592.1:c.2787C>T
ENST00000646902.1:c.3478C>T	ENSP00000494101.1:p.Pro1160Ser
ENST00000646993.1:c.*1877C>T	ENSP00000493720.1:n.*1877C>T
ENST00000647013.1:c.3487C>T	ENSP00000496741.1:n.3487C>T
ENST00000647015.1:c.3232C>T	ENSP00000495389.1:p.Pro1078Ser
ENST00000647086.1:c.*3211C>T	ENSP00000493677.1:n.*3211C>T
ENST00000647158.1:c.*1622C>T	ENSP00000495744.1:n.*1622C>T
ENST00000302539.8:c.3484C>T	ENSP00000303960.4:p.Pro1162Ser
ENST00000389817.7:c.3481C>T	ENSP00000374467.3:p.Pro1161Ser
ENST00000524561.1:n.613C>T
ENST00000527905.5:c.*357C>T	ENSP00000431653.1:n.*357C>T
NM_000352.4:c.3481C>T	NP_000343.2:p.Pro1161Ser
NM_001287174.1:c.3484C>T	NP_001274103.1:p.Pro1162Ser
XM_011520331.1:c.3481C>T	XP_011518633.1:p.Pro1161Ser
XM_011520332.1:c.3484C>T	XP_011518634.1:p.Pro1162Ser
XM_011520333.1:c.1981C>T	XP_011518635.1:p.Pro661Ser
XR_930890.1:n.3547C>T
XR_930892.1:n.3447C>T
XR_930893.1:n.3444C>T
NM_001351295.1:c.3547C>T	NP_001338224.1:p.Pro1183Ser
NM_001351296.1:c.3481C>T	NP_001338225.1:p.Pro1161Ser
NM_001351297.1:c.3478C>T	NP_001338226.1:p.Pro1160Ser
NR_147094.1:n.3630C>T
XM_017018197.2:c.3550C>T	XP_016873686.1:p.Pro1184Ser
XM_017018199.1:c.3547C>T	XP_016873688.1:p.Pro1183Ser
XM_017018201.2:c.3550C>T	XP_016873690.1:p.Pro1184Ser
XM_017018202.1:c.2047C>T	XP_016873691.1:p.Pro683Ser
XM_017018204.1:c.1438C>T	XP_016873693.1:p.Pro480Ser
XM_024448668.1:c.1849C>T	XP_024304436.1:p.Pro617Ser
XR_001747945.2:n.3622C>T
XR_001747946.2:n.3553C>T
XR_002957189.1:n.3702C>T
NM_000352.6:c.3481C>T MANE Select	NP_000343.2:p.Pro1161Ser
NM_001287174.2:c.3484C>T	NP_001274103.1:p.Pro1162Ser
NM_001351295.2:c.3547C>T	NP_001338224.1:p.Pro1183Ser
NM_001351296.2:c.3481C>T	NP_001338225.1:p.Pro1161Ser
NM_001351297.2:c.3478C>T	NP_001338226.1:p.Pro1160Ser
NR_147094.2:n.3630C>T
NM_001287174.3:c.3484C>T	NP_001274103.1:p.Pro1162Ser