Canonical Allele Identifier: CA473299665

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426130C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404583C>G , CM000673.2:g.17404583C>G	GRCh38
NC_000011.9:g.17426130C>G , CM000673.1:g.17426130C>G	GRCh37
NC_000011.8:g.17382706C>G	NCBI36
NG_008867.1:g.77320G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3055G>C
ENST00000528374.2:c.65G>C
ENST00000529967.6:n.1825G>C
ENST00000532220.2:n.1218G>C
ENST00000642611.2:n.3555G>C
ENST00000645004.2:n.985G>C
ENST00000682051.1:n.3502G>C
ENST00000682110.1:n.3555G>C
ENST00000682140.1:c.3483G>C	ENSP00000507829.1:p.Val1161=
ENST00000682185.1:n.4791G>C
ENST00000682204.1:c.*1624G>C	ENSP00000507094.1:n.*1624G>C
ENST00000682215.1:n.3552G>C
ENST00000682288.1:c.*1917G>C	ENSP00000507506.1:n.*1917G>C
ENST00000682442.1:n.3775G>C
ENST00000682528.1:n.3632G>C
ENST00000682673.1:n.3499G>C
ENST00000682805.1:n.3552G>C
ENST00000682965.1:c.3396+911G>C	ENSP00000508229.1:n.3396+911G>C
ENST00000683093.1:n.3654G>C
ENST00000683136.1:c.3483G>C	ENSP00000507768.1:p.Val1161=
ENST00000683153.1:n.3711G>C
ENST00000683365.1:n.3657G>C
ENST00000683377.1:n.3555G>C
ENST00000683456.1:c.*623G>C	ENSP00000508318.1:n.*623G>C
ENST00000683522.1:n.3555G>C
ENST00000683562.1:c.*1655G>C	ENSP00000508265.1:n.*1655G>C
ENST00000683693.1:n.3632G>C
ENST00000683725.1:c.3486G>C	ENSP00000507496.1:p.Val1162=
ENST00000684010.1:n.3550G>C
ENST00000684157.1:n.3555G>C
ENST00000684253.1:n.3458G>C
ENST00000684288.1:c.*1658G>C	ENSP00000507143.1:n.*1658G>C
ENST00000684313.1:n.2987G>C
ENST00000684332.1:n.3628G>C
ENST00000684371.1:n.3661G>C
ENST00000684404.1:n.3598G>C
ENST00000684442.1:n.3555G>C
ENST00000684555.1:c.*1698G>C	ENSP00000507705.1:n.*1698G>C
ENST00000684571.1:c.3327G>C	ENSP00000506935.1:p.Val1109=
ENST00000684593.1:c.*3191G>C	ENSP00000507005.1:n.*3191G>C
ENST00000684711.1:c.*1882G>C	ENSP00000506841.1:n.*1882G>C
ENST00000302539.9:c.3489G>C	ENSP00000303960.4:p.Val1163=
ENST00000389817.8:c.3486G>C MANE Select	ENSP00000374467.4:p.Val1162=
ENST00000642271.1:c.3483G>C	ENSP00000493749.1:p.Val1161=
ENST00000642579.1:c.1570G>C
ENST00000642611.1:n.3440G>C
ENST00000642902.1:c.3268G>C
ENST00000643260.1:c.3486G>C	ENSP00000494450.1:p.Val1162=
ENST00000643562.1:c.*1462G>C	ENSP00000496124.1:n.*1462G>C
ENST00000643925.1:c.1610G>C
ENST00000644447.1:c.1842G>C	ENSP00000496282.1:p.Val614=
ENST00000644484.1:c.*1741G>C	ENSP00000493558.1:n.*1741G>C
ENST00000644675.1:c.*1658G>C	ENSP00000494567.1:n.*1658G>C
ENST00000644757.1:c.*1771G>C	ENSP00000495085.1:n.*1771G>C
ENST00000644772.1:c.3552G>C	ENSP00000494321.1:p.Val1184=
ENST00000645004.1:n.625G>C
ENST00000645076.1:c.2685G>C
ENST00000645417.1:c.652G>C
ENST00000645744.1:c.*1750G>C	ENSP00000494564.1:n.*1750G>C
ENST00000645760.1:c.3761G>C
ENST00000645884.1:c.*623G>C	ENSP00000495516.1:n.*623G>C
ENST00000646003.1:c.*1442G>C	ENSP00000495259.1:n.*1442G>C
ENST00000646207.1:c.*1953G>C	ENSP00000495025.1:n.*1953G>C
ENST00000646276.1:c.*1759G>C	ENSP00000496070.1:n.*1759G>C
ENST00000646592.1:c.2792G>C
ENST00000646902.1:c.3483G>C	ENSP00000494101.1:p.Val1161=
ENST00000646993.1:c.*1882G>C	ENSP00000493720.1:n.*1882G>C
ENST00000647013.1:c.3492G>C	ENSP00000496741.1:n.3492G>C
ENST00000647015.1:c.3237G>C	ENSP00000495389.1:p.Val1079=
ENST00000647086.1:c.*3216G>C	ENSP00000493677.1:n.*3216G>C
ENST00000647158.1:c.*1627G>C	ENSP00000495744.1:n.*1627G>C
ENST00000302539.8:c.3489G>C	ENSP00000303960.4:p.Val1163=
ENST00000389817.7:c.3486G>C	ENSP00000374467.3:p.Val1162=
ENST00000524561.1:n.618G>C
ENST00000527905.5:c.*362G>C	ENSP00000431653.1:n.*362G>C
NM_000352.4:c.3486G>C	NP_000343.2:p.Val1162=
NM_001287174.1:c.3489G>C	NP_001274103.1:p.Val1163=
XM_011520331.1:c.3486G>C	XP_011518633.1:p.Val1162=
XM_011520332.1:c.3489G>C	XP_011518634.1:p.Val1163=
XM_011520333.1:c.1986G>C	XP_011518635.1:p.Val662=
XR_930890.1:n.3552G>C
XR_930892.1:n.3452G>C
XR_930893.1:n.3449G>C
NM_001351295.1:c.3552G>C	NP_001338224.1:p.Val1184=
NM_001351296.1:c.3486G>C	NP_001338225.1:p.Val1162=
NM_001351297.1:c.3483G>C	NP_001338226.1:p.Val1161=
NR_147094.1:n.3635G>C
XM_017018197.2:c.3555G>C	XP_016873686.1:p.Val1185=
XM_017018199.1:c.3552G>C	XP_016873688.1:p.Val1184=
XM_017018201.2:c.3555G>C	XP_016873690.1:p.Val1185=
XM_017018202.1:c.2052G>C	XP_016873691.1:p.Val684=
XM_017018204.1:c.1443G>C	XP_016873693.1:p.Val481=
XM_024448668.1:c.1854G>C	XP_024304436.1:p.Val618=
XR_001747945.2:n.3627G>C
XR_001747946.2:n.3558G>C
XR_002957189.1:n.3707G>C
NM_000352.6:c.3486G>C MANE Select	NP_000343.2:p.Val1162=
NM_001287174.2:c.3489G>C	NP_001274103.1:p.Val1163=
NM_001351295.2:c.3552G>C	NP_001338224.1:p.Val1184=
NM_001351296.2:c.3486G>C	NP_001338225.1:p.Val1162=
NM_001351297.2:c.3483G>C	NP_001338226.1:p.Val1161=
NR_147094.2:n.3635G>C
NM_001287174.3:c.3489G>C	NP_001274103.1:p.Val1163=