Canonical Allele Identifier: CA379782115

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415288C>G (hg19) ; chr11:g.17393741C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393741C>G , CM000673.2:g.17393741C>G	GRCh38
NC_000011.9:g.17415288C>G , CM000673.1:g.17415288C>G	GRCh37
NC_000011.8:g.17371864C>G	NCBI36
NG_008867.1:g.88162G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4165G>C
ENST00000526037.6:n.499G>C
ENST00000528374.2:c.1155G>C
ENST00000529967.6:n.2903G>C
ENST00000532220.2:n.3797G>C
ENST00000642611.2:n.5897G>C
ENST00000644057.2:n.1140G>C
ENST00000645004.2:n.2063G>C
ENST00000682051.1:n.4726G>C
ENST00000682110.1:n.4779G>C
ENST00000682140.1:c.*350G>C	ENSP00000507829.1:n.*350G>C
ENST00000682185.1:n.5869G>C
ENST00000682204.1:c.*2702G>C	ENSP00000507094.1:n.*2702G>C
ENST00000682215.1:n.5146G>C
ENST00000682288.1:c.*2995G>C	ENSP00000507506.1:n.*2995G>C
ENST00000682442.1:n.4999G>C
ENST00000682528.1:n.4856G>C
ENST00000682673.1:n.4723G>C
ENST00000682805.1:n.5184G>C
ENST00000682965.1:c.*986G>C	ENSP00000508229.1:n.*986G>C
ENST00000683093.1:n.5759G>C
ENST00000683136.1:c.4447G>C	ENSP00000507768.1:p.Val1483Leu
ENST00000683153.1:n.4821G>C
ENST00000683365.1:n.4881G>C
ENST00000683377.1:n.4675G>C
ENST00000683456.1:c.*1701G>C	ENSP00000508318.1:n.*1701G>C
ENST00000683522.1:n.4861G>C
ENST00000683562.1:c.*2629G>C	ENSP00000508265.1:n.*2629G>C
ENST00000683693.1:n.6240G>C
ENST00000683725.1:c.*29G>C	ENSP00000507496.1:n.*29G>C
ENST00000684010.1:n.4774G>C
ENST00000684014.1:n.751G>C
ENST00000684157.1:n.5764G>C
ENST00000684253.1:n.4682G>C
ENST00000684288.1:c.*2736G>C	ENSP00000507143.1:n.*2736G>C
ENST00000684313.1:n.4211G>C
ENST00000684332.1:n.4852G>C
ENST00000684371.1:n.4885G>C
ENST00000684404.1:n.5807G>C
ENST00000684442.1:n.5003G>C
ENST00000684555.1:c.*2776G>C	ENSP00000507705.1:n.*2776G>C
ENST00000684571.1:c.4405G>C	ENSP00000506935.1:p.Val1469Leu
ENST00000684593.1:c.*4269G>C	ENSP00000507005.1:n.*4269G>C
ENST00000684711.1:c.*2960G>C	ENSP00000506841.1:n.*2960G>C
ENST00000302539.9:c.4567G>C	ENSP00000303960.4:p.Val1523Leu
ENST00000389817.8:c.4564G>C MANE Select	ENSP00000374467.4:p.Val1522Leu
ENST00000642271.1:c.4561G>C	ENSP00000493749.1:p.Val1521Leu
ENST00000642579.1:c.2618G>C
ENST00000642611.1:n.5782G>C
ENST00000642902.1:c.4346G>C
ENST00000643260.1:c.4564G>C	ENSP00000494450.1:p.Val1522Leu
ENST00000643562.1:c.*2686G>C	ENSP00000496124.1:n.*2686G>C
ENST00000643925.1:c.3185+525G>C
ENST00000644057.1:n.723G>C
ENST00000644484.1:c.*3950G>C	ENSP00000493558.1:n.*3950G>C
ENST00000644675.1:c.*2736G>C	ENSP00000494567.1:n.*2736G>C
ENST00000644757.1:c.*3203-761G>C	ENSP00000495085.1:n.*3203-761G>C
ENST00000644772.1:c.4630G>C	ENSP00000494321.1:p.Val1544Leu
ENST00000645004.1:n.2257G>C
ENST00000645076.1:c.3659G>C
ENST00000645417.1:c.1752G>C
ENST00000645744.1:c.*4249G>C	ENSP00000494564.1:n.*4249G>C
ENST00000645760.1:c.4985G>C
ENST00000645884.1:c.*1847G>C	ENSP00000495516.1:n.*1847G>C
ENST00000646003.1:c.*2586G>C	ENSP00000495259.1:n.*2586G>C
ENST00000646207.1:c.*3401G>C	ENSP00000495025.1:n.*3401G>C
ENST00000646276.1:c.*3968G>C	ENSP00000496070.1:n.*3968G>C
ENST00000646592.1:c.3870G>C
ENST00000646902.1:c.4531G>C	ENSP00000494101.1:p.Val1511Leu
ENST00000646993.1:c.*3002G>C	ENSP00000493720.1:n.*3002G>C
ENST00000647015.1:c.4315G>C	ENSP00000495389.1:p.Val1439Leu
ENST00000647086.1:c.*4150G>C	ENSP00000493677.1:n.*4150G>C
ENST00000647158.1:c.*2851G>C	ENSP00000495744.1:n.*2851G>C
ENST00000302539.8:c.4567G>C	ENSP00000303960.4:p.Val1523Leu
ENST00000389817.7:c.4564G>C	ENSP00000374467.3:p.Val1522Leu
ENST00000525022.1:n.459G>C
ENST00000526037.5:n.324G>C
ENST00000526168.5:c.352G>C
ENST00000531642.5:c.595G>C
NM_000352.4:c.4564G>C	NP_000343.2:p.Val1522Leu
NM_001287174.1:c.4567G>C	NP_001274103.1:p.Val1523Leu
XM_011520331.1:c.4564G>C	XP_011518633.1:p.Val1522Leu
XM_011520333.1:c.3064G>C	XP_011518635.1:p.Val1022Leu
XR_930890.1:n.4526G>C
NM_001351295.1:c.4630G>C	NP_001338224.1:p.Val1544Leu
NM_001351296.1:c.4564G>C	NP_001338225.1:p.Val1522Leu
NM_001351297.1:c.4561G>C	NP_001338226.1:p.Val1521Leu
NR_147094.1:n.4859G>C
XM_017018197.2:c.4633G>C	XP_016873686.1:p.Val1545Leu
XM_017018199.1:c.4630G>C	XP_016873688.1:p.Val1544Leu
XM_017018202.1:c.3130G>C	XP_016873691.1:p.Val1044Leu
XM_017018204.1:c.2521G>C	XP_016873693.1:p.Val841Leu
XM_024448668.1:c.2932G>C	XP_024304436.1:p.Val978Leu
XR_001747945.2:n.4601G>C
XR_001747946.2:n.4532G>C
XR_002957189.1:n.6315G>C
NM_000352.6:c.4564G>C MANE Select	NP_000343.2:p.Val1522Leu
NM_001287174.2:c.4567G>C	NP_001274103.1:p.Val1523Leu
NM_001351295.2:c.4630G>C	NP_001338224.1:p.Val1544Leu
NM_001351296.2:c.4564G>C	NP_001338225.1:p.Val1522Leu
NM_001351297.2:c.4561G>C	NP_001338226.1:p.Val1521Leu
NR_147094.2:n.4859G>C
NM_001287174.3:c.4567G>C	NP_001274103.1:p.Val1523Leu