Canonical Allele Identifier: CA473299690

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426157C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404610C>G , CM000673.2:g.17404610C>G	GRCh38
NC_000011.9:g.17426157C>G , CM000673.1:g.17426157C>G	GRCh37
NC_000011.8:g.17382733C>G	NCBI36
NG_008867.1:g.77293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3028G>C
ENST00000528374.2:c.38G>C
ENST00000529967.6:n.1798G>C
ENST00000532220.2:n.1191G>C
ENST00000642611.2:n.3528G>C
ENST00000645004.2:n.958G>C
ENST00000682051.1:n.3475G>C
ENST00000682110.1:n.3528G>C
ENST00000682140.1:c.3456G>C	ENSP00000507829.1:p.Leu1152=
ENST00000682185.1:n.4764G>C
ENST00000682204.1:c.*1597G>C	ENSP00000507094.1:n.*1597G>C
ENST00000682215.1:n.3525G>C
ENST00000682288.1:c.*1890G>C	ENSP00000507506.1:n.*1890G>C
ENST00000682442.1:n.3748G>C
ENST00000682528.1:n.3605G>C
ENST00000682673.1:n.3472G>C
ENST00000682805.1:n.3525G>C
ENST00000682965.1:c.3396+884G>C	ENSP00000508229.1:n.3396+884G>C
ENST00000683093.1:n.3627G>C
ENST00000683136.1:c.3456G>C	ENSP00000507768.1:p.Leu1152=
ENST00000683153.1:n.3684G>C
ENST00000683365.1:n.3630G>C
ENST00000683377.1:n.3528G>C
ENST00000683456.1:c.*596G>C	ENSP00000508318.1:n.*596G>C
ENST00000683522.1:n.3528G>C
ENST00000683562.1:c.*1628G>C	ENSP00000508265.1:n.*1628G>C
ENST00000683693.1:n.3605G>C
ENST00000683725.1:c.3459G>C	ENSP00000507496.1:p.Leu1153=
ENST00000684010.1:n.3523G>C
ENST00000684157.1:n.3528G>C
ENST00000684253.1:n.3431G>C
ENST00000684288.1:c.*1631G>C	ENSP00000507143.1:n.*1631G>C
ENST00000684313.1:n.2960G>C
ENST00000684332.1:n.3601G>C
ENST00000684371.1:n.3634G>C
ENST00000684404.1:n.3571G>C
ENST00000684442.1:n.3528G>C
ENST00000684555.1:c.*1671G>C	ENSP00000507705.1:n.*1671G>C
ENST00000684571.1:c.3300G>C	ENSP00000506935.1:p.Leu1100=
ENST00000684593.1:c.*3164G>C	ENSP00000507005.1:n.*3164G>C
ENST00000684711.1:c.*1855G>C	ENSP00000506841.1:n.*1855G>C
ENST00000302539.9:c.3462G>C	ENSP00000303960.4:p.Leu1154=
ENST00000389817.8:c.3459G>C MANE Select	ENSP00000374467.4:p.Leu1153=
ENST00000642271.1:c.3456G>C	ENSP00000493749.1:p.Leu1152=
ENST00000642579.1:c.1543G>C
ENST00000642611.1:n.3413G>C
ENST00000642902.1:c.3241G>C
ENST00000643260.1:c.3459G>C	ENSP00000494450.1:p.Leu1153=
ENST00000643562.1:c.*1435G>C	ENSP00000496124.1:n.*1435G>C
ENST00000643925.1:c.1583G>C
ENST00000644447.1:c.1815G>C	ENSP00000496282.1:p.Leu605=
ENST00000644484.1:c.*1714G>C	ENSP00000493558.1:n.*1714G>C
ENST00000644675.1:c.*1631G>C	ENSP00000494567.1:n.*1631G>C
ENST00000644757.1:c.*1744G>C	ENSP00000495085.1:n.*1744G>C
ENST00000644772.1:c.3525G>C	ENSP00000494321.1:p.Leu1175=
ENST00000645004.1:n.598G>C
ENST00000645076.1:c.2658G>C
ENST00000645417.1:c.625G>C
ENST00000645744.1:c.*1723G>C	ENSP00000494564.1:n.*1723G>C
ENST00000645760.1:c.3734G>C
ENST00000645884.1:c.*596G>C	ENSP00000495516.1:n.*596G>C
ENST00000646003.1:c.*1415G>C	ENSP00000495259.1:n.*1415G>C
ENST00000646207.1:c.*1926G>C	ENSP00000495025.1:n.*1926G>C
ENST00000646276.1:c.*1732G>C	ENSP00000496070.1:n.*1732G>C
ENST00000646592.1:c.2765G>C
ENST00000646902.1:c.3456G>C	ENSP00000494101.1:p.Leu1152=
ENST00000646993.1:c.*1855G>C	ENSP00000493720.1:n.*1855G>C
ENST00000647013.1:c.3465G>C	ENSP00000496741.1:n.3465G>C
ENST00000647015.1:c.3210G>C	ENSP00000495389.1:p.Leu1070=
ENST00000647086.1:c.*3189G>C	ENSP00000493677.1:n.*3189G>C
ENST00000647158.1:c.*1600G>C	ENSP00000495744.1:n.*1600G>C
ENST00000302539.8:c.3462G>C	ENSP00000303960.4:p.Leu1154=
ENST00000389817.7:c.3459G>C	ENSP00000374467.3:p.Leu1153=
ENST00000524561.1:n.591G>C
ENST00000527905.5:c.*335G>C	ENSP00000431653.1:n.*335G>C
NM_000352.4:c.3459G>C	NP_000343.2:p.Leu1153=
NM_001287174.1:c.3462G>C	NP_001274103.1:p.Leu1154=
XM_011520331.1:c.3459G>C	XP_011518633.1:p.Leu1153=
XM_011520332.1:c.3462G>C	XP_011518634.1:p.Leu1154=
XM_011520333.1:c.1959G>C	XP_011518635.1:p.Leu653=
XR_930890.1:n.3525G>C
XR_930892.1:n.3425G>C
XR_930893.1:n.3422G>C
NM_001351295.1:c.3525G>C	NP_001338224.1:p.Leu1175=
NM_001351296.1:c.3459G>C	NP_001338225.1:p.Leu1153=
NM_001351297.1:c.3456G>C	NP_001338226.1:p.Leu1152=
NR_147094.1:n.3608G>C
XM_017018197.2:c.3528G>C	XP_016873686.1:p.Leu1176=
XM_017018199.1:c.3525G>C	XP_016873688.1:p.Leu1175=
XM_017018201.2:c.3528G>C	XP_016873690.1:p.Leu1176=
XM_017018202.1:c.2025G>C	XP_016873691.1:p.Leu675=
XM_017018204.1:c.1416G>C	XP_016873693.1:p.Leu472=
XM_024448668.1:c.1827G>C	XP_024304436.1:p.Leu609=
XR_001747945.2:n.3600G>C
XR_001747946.2:n.3531G>C
XR_002957189.1:n.3680G>C
NM_000352.6:c.3459G>C MANE Select	NP_000343.2:p.Leu1153=
NM_001287174.2:c.3462G>C	NP_001274103.1:p.Leu1154=
NM_001351295.2:c.3525G>C	NP_001338224.1:p.Leu1175=
NM_001351296.2:c.3459G>C	NP_001338225.1:p.Leu1153=
NM_001351297.2:c.3456G>C	NP_001338226.1:p.Leu1152=
NR_147094.2:n.3608G>C
NM_001287174.3:c.3462G>C	NP_001274103.1:p.Leu1154=