Canonical Allele Identifier: CA379803113

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428445G>T (hg19) ; chr11:g.17406898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406898G>T , CM000673.2:g.17406898G>T	GRCh38
NC_000011.9:g.17428445G>T , CM000673.1:g.17428445G>T	GRCh37
NC_000011.8:g.17385021G>T	NCBI36
NG_008867.1:g.75005C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2721C>A
ENST00000529967.6:n.1491C>A
ENST00000532220.2:n.884C>A
ENST00000642611.2:n.3221C>A
ENST00000645004.2:n.651C>A
ENST00000682051.1:n.3168C>A
ENST00000682110.1:n.3221C>A
ENST00000682140.1:c.3149C>A	ENSP00000507829.1:p.Ser1050Tyr
ENST00000682185.1:n.4457C>A
ENST00000682204.1:c.*1290C>A	ENSP00000507094.1:n.*1290C>A
ENST00000682215.1:n.3218C>A
ENST00000682288.1:c.*1583C>A	ENSP00000507506.1:n.*1583C>A
ENST00000682442.1:n.3342C>A
ENST00000682528.1:n.3298C>A
ENST00000682673.1:n.3165C>A
ENST00000682805.1:n.3218C>A
ENST00000682965.1:c.3149C>A	ENSP00000508229.1:p.Ser1050Tyr
ENST00000683093.1:n.3320C>A
ENST00000683136.1:c.3149C>A	ENSP00000507768.1:p.Ser1050Tyr
ENST00000683153.1:n.3377C>A
ENST00000683365.1:n.3323C>A
ENST00000683377.1:n.3221C>A
ENST00000683456.1:c.*289C>A	ENSP00000508318.1:n.*289C>A
ENST00000683522.1:n.3221C>A
ENST00000683562.1:c.*1321C>A	ENSP00000508265.1:n.*1321C>A
ENST00000683693.1:n.3298C>A
ENST00000683725.1:c.3152C>A	ENSP00000507496.1:p.Ser1051Tyr
ENST00000684010.1:n.3216C>A
ENST00000684157.1:n.3221C>A
ENST00000684253.1:n.3124C>A
ENST00000684288.1:c.*1324C>A	ENSP00000507143.1:n.*1324C>A
ENST00000684313.1:n.2653C>A
ENST00000684332.1:n.3294C>A
ENST00000684371.1:n.3327C>A
ENST00000684404.1:n.3264C>A
ENST00000684442.1:n.3221C>A
ENST00000684555.1:c.*1364C>A	ENSP00000507705.1:n.*1364C>A
ENST00000684571.1:c.2993C>A	ENSP00000506935.1:p.Ser998Tyr
ENST00000684593.1:c.*2857C>A	ENSP00000507005.1:n.*2857C>A
ENST00000684711.1:c.*1548C>A	ENSP00000506841.1:n.*1548C>A
ENST00000302539.9:c.3155C>A	ENSP00000303960.4:p.Ser1052Tyr
ENST00000389817.8:c.3152C>A MANE Select	ENSP00000374467.4:p.Ser1051Tyr
ENST00000642271.1:c.3149C>A	ENSP00000493749.1:p.Ser1050Tyr
ENST00000642579.1:c.1236C>A
ENST00000642611.1:n.3106C>A
ENST00000642902.1:c.2934C>A
ENST00000643260.1:c.3152C>A	ENSP00000494450.1:p.Ser1051Tyr
ENST00000643562.1:c.*1128C>A	ENSP00000496124.1:n.*1128C>A
ENST00000643925.1:c.1276C>A
ENST00000644447.1:c.1508C>A	ENSP00000496282.1:p.Ser503Tyr
ENST00000644484.1:c.*1407C>A	ENSP00000493558.1:n.*1407C>A
ENST00000644542.1:c.*2857C>A	ENSP00000495532.1:n.*2857C>A
ENST00000644675.1:c.*1324C>A	ENSP00000494567.1:n.*1324C>A
ENST00000644757.1:c.*1437C>A	ENSP00000495085.1:n.*1437C>A
ENST00000644772.1:c.3218C>A	ENSP00000494321.1:p.Ser1073Tyr
ENST00000645004.1:n.291C>A
ENST00000645076.1:c.2351C>A
ENST00000645417.1:c.318C>A
ENST00000645744.1:c.*1416C>A	ENSP00000494564.1:n.*1416C>A
ENST00000645760.1:c.3427C>A
ENST00000645884.1:c.*289C>A	ENSP00000495516.1:n.*289C>A
ENST00000646003.1:c.*1108C>A	ENSP00000495259.1:n.*1108C>A
ENST00000646207.1:c.*1619C>A	ENSP00000495025.1:n.*1619C>A
ENST00000646276.1:c.*1425C>A	ENSP00000496070.1:n.*1425C>A
ENST00000646592.1:c.2458C>A
ENST00000646902.1:c.3149C>A	ENSP00000494101.1:p.Ser1050Tyr
ENST00000646993.1:c.*1548C>A	ENSP00000493720.1:n.*1548C>A
ENST00000647013.1:c.3158C>A	ENSP00000496741.1:n.3158C>A
ENST00000647015.1:c.2903C>A	ENSP00000495389.1:p.Ser968Tyr
ENST00000647086.1:c.*2882C>A	ENSP00000493677.1:n.*2882C>A
ENST00000647158.1:c.*1293C>A	ENSP00000495744.1:n.*1293C>A
ENST00000302539.8:c.3155C>A	ENSP00000303960.4:p.Ser1052Tyr
ENST00000389817.7:c.3152C>A	ENSP00000374467.3:p.Ser1051Tyr
ENST00000524561.1:n.284C>A
ENST00000526921.5:n.836C>A
ENST00000527905.5:c.*28C>A	ENSP00000431653.1:n.*28C>A
ENST00000529967.5:n.821C>A
NM_000352.4:c.3152C>A	NP_000343.2:p.Ser1051Tyr
NM_001287174.1:c.3155C>A	NP_001274103.1:p.Ser1052Tyr
XM_011520331.1:c.3152C>A	XP_011518633.1:p.Ser1051Tyr
XM_011520332.1:c.3155C>A	XP_011518634.1:p.Ser1052Tyr
XM_011520333.1:c.1652C>A	XP_011518635.1:p.Ser551Tyr
XR_930890.1:n.3218C>A
XR_930891.1:n.3218C>A
XR_930892.1:n.3118C>A
XR_930893.1:n.3115C>A
NM_001351295.1:c.3218C>A	NP_001338224.1:p.Ser1073Tyr
NM_001351296.1:c.3152C>A	NP_001338225.1:p.Ser1051Tyr
NM_001351297.1:c.3149C>A	NP_001338226.1:p.Ser1050Tyr
NR_147094.1:n.3301C>A
XM_017018197.2:c.3221C>A	XP_016873686.1:p.Ser1074Tyr
XM_017018199.1:c.3218C>A	XP_016873688.1:p.Ser1073Tyr
XM_017018201.2:c.3221C>A	XP_016873690.1:p.Ser1074Tyr
XM_017018202.1:c.1718C>A	XP_016873691.1:p.Ser573Tyr
XM_017018204.1:c.1109C>A	XP_016873693.1:p.Ser370Tyr
XM_024448668.1:c.1520C>A	XP_024304436.1:p.Ser507Tyr
XR_001747945.2:n.3293C>A
XR_001747946.2:n.3224C>A
XR_002957189.1:n.3373C>A
NM_000352.6:c.3152C>A MANE Select	NP_000343.2:p.Ser1051Tyr
NM_001287174.2:c.3155C>A	NP_001274103.1:p.Ser1052Tyr
NM_001351295.2:c.3218C>A	NP_001338224.1:p.Ser1073Tyr
NM_001351296.2:c.3152C>A	NP_001338225.1:p.Ser1051Tyr
NM_001351297.2:c.3149C>A	NP_001338226.1:p.Ser1050Tyr
NR_147094.2:n.3301C>A
NM_001287174.3:c.3155C>A	NP_001274103.1:p.Ser1052Tyr