Canonical Allele Identifier: CA379781835

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415254A>G (hg19) ; chr11:g.17393707A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393707A>G , CM000673.2:g.17393707A>G	GRCh38
NC_000011.9:g.17415254A>G , CM000673.1:g.17415254A>G	GRCh37
NC_000011.8:g.17371830A>G	NCBI36
NG_008867.1:g.88196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4199T>C
ENST00000526037.6:n.533T>C
ENST00000528374.2:c.1189T>C
ENST00000529967.6:n.2937T>C
ENST00000532220.2:n.3831T>C
ENST00000642611.2:n.5931T>C
ENST00000644057.2:n.1174T>C
ENST00000645004.2:n.2097T>C
ENST00000682051.1:n.4760T>C
ENST00000682110.1:n.4813T>C
ENST00000682140.1:c.*384T>C	ENSP00000507829.1:n.*384T>C
ENST00000682185.1:n.5903T>C
ENST00000682204.1:c.*2736T>C	ENSP00000507094.1:n.*2736T>C
ENST00000682215.1:n.5180T>C
ENST00000682288.1:c.*3029T>C	ENSP00000507506.1:n.*3029T>C
ENST00000682442.1:n.5033T>C
ENST00000682528.1:n.4890T>C
ENST00000682673.1:n.4757T>C
ENST00000682805.1:n.5218T>C
ENST00000682965.1:c.*1020T>C	ENSP00000508229.1:n.*1020T>C
ENST00000683093.1:n.5793T>C
ENST00000683136.1:c.4481T>C	ENSP00000507768.1:p.Val1494Ala
ENST00000683153.1:n.4855T>C
ENST00000683365.1:n.4915T>C
ENST00000683377.1:n.4709T>C
ENST00000683456.1:c.*1735T>C	ENSP00000508318.1:n.*1735T>C
ENST00000683522.1:n.4895T>C
ENST00000683562.1:c.*2663T>C	ENSP00000508265.1:n.*2663T>C
ENST00000683693.1:n.6274T>C
ENST00000683725.1:c.*63T>C	ENSP00000507496.1:n.*63T>C
ENST00000684010.1:n.4808T>C
ENST00000684014.1:n.785T>C
ENST00000684157.1:n.5798T>C
ENST00000684253.1:n.4716T>C
ENST00000684288.1:c.*2770T>C	ENSP00000507143.1:n.*2770T>C
ENST00000684313.1:n.4245T>C
ENST00000684332.1:n.4886T>C
ENST00000684371.1:n.4919T>C
ENST00000684404.1:n.5841T>C
ENST00000684442.1:n.5037T>C
ENST00000684555.1:c.*2810T>C	ENSP00000507705.1:n.*2810T>C
ENST00000684571.1:c.4439T>C	ENSP00000506935.1:p.Val1480Ala
ENST00000684593.1:c.*4303T>C	ENSP00000507005.1:n.*4303T>C
ENST00000684711.1:c.*2994T>C	ENSP00000506841.1:n.*2994T>C
ENST00000302539.9:c.4601T>C	ENSP00000303960.4:p.Val1534Ala
ENST00000389817.8:c.4598T>C MANE Select	ENSP00000374467.4:p.Val1533Ala
ENST00000642271.1:c.4595T>C	ENSP00000493749.1:p.Val1532Ala
ENST00000642579.1:c.2652T>C
ENST00000642611.1:n.5816T>C
ENST00000642902.1:c.4380T>C
ENST00000643260.1:c.4598T>C	ENSP00000494450.1:p.Val1533Ala
ENST00000643562.1:c.*2720T>C	ENSP00000496124.1:n.*2720T>C
ENST00000643925.1:c.3185+559T>C
ENST00000644057.1:n.757T>C
ENST00000644484.1:c.*3984T>C	ENSP00000493558.1:n.*3984T>C
ENST00000644675.1:c.*2770T>C	ENSP00000494567.1:n.*2770T>C
ENST00000644757.1:c.*3203-727T>C	ENSP00000495085.1:n.*3203-727T>C
ENST00000644772.1:c.4664T>C	ENSP00000494321.1:p.Val1555Ala
ENST00000645004.1:n.2291T>C
ENST00000645076.1:c.3693T>C
ENST00000645417.1:c.1786T>C
ENST00000645744.1:c.*4283T>C	ENSP00000494564.1:n.*4283T>C
ENST00000645760.1:c.5019T>C
ENST00000645884.1:c.*1881T>C	ENSP00000495516.1:n.*1881T>C
ENST00000646003.1:c.*2620T>C	ENSP00000495259.1:n.*2620T>C
ENST00000646207.1:c.*3435T>C	ENSP00000495025.1:n.*3435T>C
ENST00000646276.1:c.*4002T>C	ENSP00000496070.1:n.*4002T>C
ENST00000646592.1:c.3904T>C
ENST00000646902.1:c.4565T>C	ENSP00000494101.1:p.Val1522Ala
ENST00000646993.1:c.*3036T>C	ENSP00000493720.1:n.*3036T>C
ENST00000647015.1:c.4349T>C	ENSP00000495389.1:p.Val1450Ala
ENST00000647086.1:c.*4184T>C	ENSP00000493677.1:n.*4184T>C
ENST00000647158.1:c.*2885T>C	ENSP00000495744.1:n.*2885T>C
ENST00000302539.8:c.4601T>C	ENSP00000303960.4:p.Val1534Ala
ENST00000389817.7:c.4598T>C	ENSP00000374467.3:p.Val1533Ala
ENST00000525022.1:n.493T>C
ENST00000526037.5:n.358T>C
ENST00000526168.5:c.386T>C
ENST00000531642.5:c.629T>C
NM_000352.4:c.4598T>C	NP_000343.2:p.Val1533Ala
NM_001287174.1:c.4601T>C	NP_001274103.1:p.Val1534Ala
XM_011520331.1:c.4598T>C	XP_011518633.1:p.Val1533Ala
XM_011520333.1:c.3098T>C	XP_011518635.1:p.Val1033Ala
XR_930890.1:n.4560T>C
NM_001351295.1:c.4664T>C	NP_001338224.1:p.Val1555Ala
NM_001351296.1:c.4598T>C	NP_001338225.1:p.Val1533Ala
NM_001351297.1:c.4595T>C	NP_001338226.1:p.Val1532Ala
NR_147094.1:n.4893T>C
XM_017018197.2:c.4667T>C	XP_016873686.1:p.Val1556Ala
XM_017018199.1:c.4664T>C	XP_016873688.1:p.Val1555Ala
XM_017018202.1:c.3164T>C	XP_016873691.1:p.Val1055Ala
XM_017018204.1:c.2555T>C	XP_016873693.1:p.Val852Ala
XM_024448668.1:c.2966T>C	XP_024304436.1:p.Val989Ala
XR_001747945.2:n.4635T>C
XR_001747946.2:n.4566T>C
XR_002957189.1:n.6349T>C
NM_000352.6:c.4598T>C MANE Select	NP_000343.2:p.Val1533Ala
NM_001287174.2:c.4601T>C	NP_001274103.1:p.Val1534Ala
NM_001351295.2:c.4664T>C	NP_001338224.1:p.Val1555Ala
NM_001351296.2:c.4598T>C	NP_001338225.1:p.Val1533Ala
NM_001351297.2:c.4595T>C	NP_001338226.1:p.Val1532Ala
NR_147094.2:n.4893T>C
NM_001287174.3:c.4601T>C	NP_001274103.1:p.Val1534Ala