Canonical Allele Identifier: CA379781855

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415255C>G (hg19) ; chr11:g.17393708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393708C>G , CM000673.2:g.17393708C>G	GRCh38
NC_000011.9:g.17415255C>G , CM000673.1:g.17415255C>G	GRCh37
NC_000011.8:g.17371831C>G	NCBI36
NG_008867.1:g.88195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4198G>C
ENST00000526037.6:n.532G>C
ENST00000528374.2:c.1188G>C
ENST00000529967.6:n.2936G>C
ENST00000532220.2:n.3830G>C
ENST00000642611.2:n.5930G>C
ENST00000644057.2:n.1173G>C
ENST00000645004.2:n.2096G>C
ENST00000682051.1:n.4759G>C
ENST00000682110.1:n.4812G>C
ENST00000682140.1:c.*383G>C	ENSP00000507829.1:n.*383G>C
ENST00000682185.1:n.5902G>C
ENST00000682204.1:c.*2735G>C	ENSP00000507094.1:n.*2735G>C
ENST00000682215.1:n.5179G>C
ENST00000682288.1:c.*3028G>C	ENSP00000507506.1:n.*3028G>C
ENST00000682442.1:n.5032G>C
ENST00000682528.1:n.4889G>C
ENST00000682673.1:n.4756G>C
ENST00000682805.1:n.5217G>C
ENST00000682965.1:c.*1019G>C	ENSP00000508229.1:n.*1019G>C
ENST00000683093.1:n.5792G>C
ENST00000683136.1:c.4480G>C	ENSP00000507768.1:p.Val1494Leu
ENST00000683153.1:n.4854G>C
ENST00000683365.1:n.4914G>C
ENST00000683377.1:n.4708G>C
ENST00000683456.1:c.*1734G>C	ENSP00000508318.1:n.*1734G>C
ENST00000683522.1:n.4894G>C
ENST00000683562.1:c.*2662G>C	ENSP00000508265.1:n.*2662G>C
ENST00000683693.1:n.6273G>C
ENST00000683725.1:c.*62G>C	ENSP00000507496.1:n.*62G>C
ENST00000684010.1:n.4807G>C
ENST00000684014.1:n.784G>C
ENST00000684157.1:n.5797G>C
ENST00000684253.1:n.4715G>C
ENST00000684288.1:c.*2769G>C	ENSP00000507143.1:n.*2769G>C
ENST00000684313.1:n.4244G>C
ENST00000684332.1:n.4885G>C
ENST00000684371.1:n.4918G>C
ENST00000684404.1:n.5840G>C
ENST00000684442.1:n.5036G>C
ENST00000684555.1:c.*2809G>C	ENSP00000507705.1:n.*2809G>C
ENST00000684571.1:c.4438G>C	ENSP00000506935.1:p.Val1480Leu
ENST00000684593.1:c.*4302G>C	ENSP00000507005.1:n.*4302G>C
ENST00000684711.1:c.*2993G>C	ENSP00000506841.1:n.*2993G>C
ENST00000302539.9:c.4600G>C	ENSP00000303960.4:p.Val1534Leu
ENST00000389817.8:c.4597G>C MANE Select	ENSP00000374467.4:p.Val1533Leu
ENST00000642271.1:c.4594G>C	ENSP00000493749.1:p.Val1532Leu
ENST00000642579.1:c.2651G>C
ENST00000642611.1:n.5815G>C
ENST00000642902.1:c.4379G>C
ENST00000643260.1:c.4597G>C	ENSP00000494450.1:p.Val1533Leu
ENST00000643562.1:c.*2719G>C	ENSP00000496124.1:n.*2719G>C
ENST00000643925.1:c.3185+558G>C
ENST00000644057.1:n.756G>C
ENST00000644484.1:c.*3983G>C	ENSP00000493558.1:n.*3983G>C
ENST00000644675.1:c.*2769G>C	ENSP00000494567.1:n.*2769G>C
ENST00000644757.1:c.*3203-728G>C	ENSP00000495085.1:n.*3203-728G>C
ENST00000644772.1:c.4663G>C	ENSP00000494321.1:p.Val1555Leu
ENST00000645004.1:n.2290G>C
ENST00000645076.1:c.3692G>C
ENST00000645417.1:c.1785G>C
ENST00000645744.1:c.*4282G>C	ENSP00000494564.1:n.*4282G>C
ENST00000645760.1:c.5018G>C
ENST00000645884.1:c.*1880G>C	ENSP00000495516.1:n.*1880G>C
ENST00000646003.1:c.*2619G>C	ENSP00000495259.1:n.*2619G>C
ENST00000646207.1:c.*3434G>C	ENSP00000495025.1:n.*3434G>C
ENST00000646276.1:c.*4001G>C	ENSP00000496070.1:n.*4001G>C
ENST00000646592.1:c.3903G>C
ENST00000646902.1:c.4564G>C	ENSP00000494101.1:p.Val1522Leu
ENST00000646993.1:c.*3035G>C	ENSP00000493720.1:n.*3035G>C
ENST00000647015.1:c.4348G>C	ENSP00000495389.1:p.Val1450Leu
ENST00000647086.1:c.*4183G>C	ENSP00000493677.1:n.*4183G>C
ENST00000647158.1:c.*2884G>C	ENSP00000495744.1:n.*2884G>C
ENST00000302539.8:c.4600G>C	ENSP00000303960.4:p.Val1534Leu
ENST00000389817.7:c.4597G>C	ENSP00000374467.3:p.Val1533Leu
ENST00000525022.1:n.492G>C
ENST00000526037.5:n.357G>C
ENST00000526168.5:c.385G>C
ENST00000531642.5:c.628G>C
NM_000352.4:c.4597G>C	NP_000343.2:p.Val1533Leu
NM_001287174.1:c.4600G>C	NP_001274103.1:p.Val1534Leu
XM_011520331.1:c.4597G>C	XP_011518633.1:p.Val1533Leu
XM_011520333.1:c.3097G>C	XP_011518635.1:p.Val1033Leu
XR_930890.1:n.4559G>C
NM_001351295.1:c.4663G>C	NP_001338224.1:p.Val1555Leu
NM_001351296.1:c.4597G>C	NP_001338225.1:p.Val1533Leu
NM_001351297.1:c.4594G>C	NP_001338226.1:p.Val1532Leu
NR_147094.1:n.4892G>C
XM_017018197.2:c.4666G>C	XP_016873686.1:p.Val1556Leu
XM_017018199.1:c.4663G>C	XP_016873688.1:p.Val1555Leu
XM_017018202.1:c.3163G>C	XP_016873691.1:p.Val1055Leu
XM_017018204.1:c.2554G>C	XP_016873693.1:p.Val852Leu
XM_024448668.1:c.2965G>C	XP_024304436.1:p.Val989Leu
XR_001747945.2:n.4634G>C
XR_001747946.2:n.4565G>C
XR_002957189.1:n.6348G>C
NM_000352.6:c.4597G>C MANE Select	NP_000343.2:p.Val1533Leu
NM_001287174.2:c.4600G>C	NP_001274103.1:p.Val1534Leu
NM_001351295.2:c.4663G>C	NP_001338224.1:p.Val1555Leu
NM_001351296.2:c.4597G>C	NP_001338225.1:p.Val1533Leu
NM_001351297.2:c.4594G>C	NP_001338226.1:p.Val1532Leu
NR_147094.2:n.4892G>C
NM_001287174.3:c.4600G>C	NP_001274103.1:p.Val1534Leu