Canonical Allele Identifier: CA473299920

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426205G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404658G>C , CM000673.2:g.17404658G>C	GRCh38
NC_000011.9:g.17426205G>C , CM000673.1:g.17426205G>C	GRCh37
NC_000011.8:g.17382781G>C	NCBI36
NG_008867.1:g.77245C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2980C>G
ENST00000529967.6:n.1750C>G
ENST00000532220.2:n.1143C>G
ENST00000642611.2:n.3480C>G
ENST00000645004.2:n.910C>G
ENST00000682051.1:n.3427C>G
ENST00000682110.1:n.3480C>G
ENST00000682140.1:c.3408C>G	ENSP00000507829.1:p.Ser1136=
ENST00000682185.1:n.4716C>G
ENST00000682204.1:c.*1549C>G	ENSP00000507094.1:n.*1549C>G
ENST00000682215.1:n.3477C>G
ENST00000682288.1:c.*1842C>G	ENSP00000507506.1:n.*1842C>G
ENST00000682442.1:n.3700C>G
ENST00000682528.1:n.3557C>G
ENST00000682673.1:n.3424C>G
ENST00000682805.1:n.3477C>G
ENST00000682965.1:c.3396+836C>G	ENSP00000508229.1:n.3396+836C>G
ENST00000683093.1:n.3579C>G
ENST00000683136.1:c.3408C>G	ENSP00000507768.1:p.Ser1136=
ENST00000683153.1:n.3636C>G
ENST00000683365.1:n.3582C>G
ENST00000683377.1:n.3480C>G
ENST00000683456.1:c.*548C>G	ENSP00000508318.1:n.*548C>G
ENST00000683522.1:n.3480C>G
ENST00000683562.1:c.*1580C>G	ENSP00000508265.1:n.*1580C>G
ENST00000683693.1:n.3557C>G
ENST00000683725.1:c.3411C>G	ENSP00000507496.1:p.Ser1137=
ENST00000684010.1:n.3475C>G
ENST00000684157.1:n.3480C>G
ENST00000684253.1:n.3383C>G
ENST00000684288.1:c.*1583C>G	ENSP00000507143.1:n.*1583C>G
ENST00000684313.1:n.2912C>G
ENST00000684332.1:n.3553C>G
ENST00000684371.1:n.3586C>G
ENST00000684404.1:n.3523C>G
ENST00000684442.1:n.3480C>G
ENST00000684555.1:c.*1623C>G	ENSP00000507705.1:n.*1623C>G
ENST00000684571.1:c.3252C>G	ENSP00000506935.1:p.Ser1084=
ENST00000684593.1:c.*3116C>G	ENSP00000507005.1:n.*3116C>G
ENST00000684711.1:c.*1807C>G	ENSP00000506841.1:n.*1807C>G
ENST00000302539.9:c.3414C>G	ENSP00000303960.4:p.Ser1138=
ENST00000389817.8:c.3411C>G MANE Select	ENSP00000374467.4:p.Ser1137=
ENST00000642271.1:c.3408C>G	ENSP00000493749.1:p.Ser1136=
ENST00000642579.1:c.1495C>G
ENST00000642611.1:n.3365C>G
ENST00000642902.1:c.3193C>G
ENST00000643260.1:c.3411C>G	ENSP00000494450.1:p.Ser1137=
ENST00000643562.1:c.*1387C>G	ENSP00000496124.1:n.*1387C>G
ENST00000643925.1:c.1535C>G
ENST00000644447.1:c.1767C>G	ENSP00000496282.1:p.Ser589=
ENST00000644484.1:c.*1666C>G	ENSP00000493558.1:n.*1666C>G
ENST00000644675.1:c.*1583C>G	ENSP00000494567.1:n.*1583C>G
ENST00000644757.1:c.*1696C>G	ENSP00000495085.1:n.*1696C>G
ENST00000644772.1:c.3477C>G	ENSP00000494321.1:p.Ser1159=
ENST00000645004.1:n.550C>G
ENST00000645076.1:c.2610C>G
ENST00000645417.1:c.577C>G
ENST00000645744.1:c.*1675C>G	ENSP00000494564.1:n.*1675C>G
ENST00000645760.1:c.3686C>G
ENST00000645884.1:c.*548C>G	ENSP00000495516.1:n.*548C>G
ENST00000646003.1:c.*1367C>G	ENSP00000495259.1:n.*1367C>G
ENST00000646207.1:c.*1878C>G	ENSP00000495025.1:n.*1878C>G
ENST00000646276.1:c.*1684C>G	ENSP00000496070.1:n.*1684C>G
ENST00000646592.1:c.2717C>G
ENST00000646902.1:c.3408C>G	ENSP00000494101.1:p.Ser1136=
ENST00000646993.1:c.*1807C>G	ENSP00000493720.1:n.*1807C>G
ENST00000647013.1:c.3417C>G	ENSP00000496741.1:n.3417C>G
ENST00000647015.1:c.3162C>G	ENSP00000495389.1:p.Ser1054=
ENST00000647086.1:c.*3141C>G	ENSP00000493677.1:n.*3141C>G
ENST00000647158.1:c.*1552C>G	ENSP00000495744.1:n.*1552C>G
ENST00000302539.8:c.3414C>G	ENSP00000303960.4:p.Ser1138=
ENST00000389817.7:c.3411C>G	ENSP00000374467.3:p.Ser1137=
ENST00000524561.1:n.543C>G
ENST00000527905.5:c.*287C>G	ENSP00000431653.1:n.*287C>G
NM_000352.4:c.3411C>G	NP_000343.2:p.Ser1137=
NM_001287174.1:c.3414C>G	NP_001274103.1:p.Ser1138=
XM_011520331.1:c.3411C>G	XP_011518633.1:p.Ser1137=
XM_011520332.1:c.3414C>G	XP_011518634.1:p.Ser1138=
XM_011520333.1:c.1911C>G	XP_011518635.1:p.Ser637=
XR_930890.1:n.3477C>G
XR_930891.1:n.3478C>G
XR_930892.1:n.3377C>G
XR_930893.1:n.3374C>G
NM_001351295.1:c.3477C>G	NP_001338224.1:p.Ser1159=
NM_001351296.1:c.3411C>G	NP_001338225.1:p.Ser1137=
NM_001351297.1:c.3408C>G	NP_001338226.1:p.Ser1136=
NR_147094.1:n.3560C>G
XM_017018197.2:c.3480C>G	XP_016873686.1:p.Ser1160=
XM_017018199.1:c.3477C>G	XP_016873688.1:p.Ser1159=
XM_017018201.2:c.3480C>G	XP_016873690.1:p.Ser1160=
XM_017018202.1:c.1977C>G	XP_016873691.1:p.Ser659=
XM_017018204.1:c.1368C>G	XP_016873693.1:p.Ser456=
XM_024448668.1:c.1779C>G	XP_024304436.1:p.Ser593=
XR_001747945.2:n.3552C>G
XR_001747946.2:n.3483C>G
XR_002957189.1:n.3632C>G
NM_000352.6:c.3411C>G MANE Select	NP_000343.2:p.Ser1137=
NM_001287174.2:c.3414C>G	NP_001274103.1:p.Ser1138=
NM_001351295.2:c.3477C>G	NP_001338224.1:p.Ser1159=
NM_001351296.2:c.3411C>G	NP_001338225.1:p.Ser1137=
NM_001351297.2:c.3408C>G	NP_001338226.1:p.Ser1136=
NR_147094.2:n.3560C>G
NM_001287174.3:c.3414C>G	NP_001274103.1:p.Ser1138=