Canonical Allele Identifier: CA379781755

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415248A>C (hg19) ; chr11:g.17393701A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393701A>C , CM000673.2:g.17393701A>C	GRCh38
NC_000011.9:g.17415248A>C , CM000673.1:g.17415248A>C	GRCh37
NC_000011.8:g.17371824A>C	NCBI36
NG_008867.1:g.88202T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4205T>G
ENST00000526037.6:n.539T>G
ENST00000528374.2:c.1195T>G
ENST00000529967.6:n.2943T>G
ENST00000532220.2:n.3837T>G
ENST00000642611.2:n.5937T>G
ENST00000644057.2:n.1180T>G
ENST00000645004.2:n.2103T>G
ENST00000682051.1:n.4766T>G
ENST00000682110.1:n.4819T>G
ENST00000682140.1:c.*390T>G	ENSP00000507829.1:n.*390T>G
ENST00000682185.1:n.5909T>G
ENST00000682204.1:c.*2742T>G	ENSP00000507094.1:n.*2742T>G
ENST00000682215.1:n.5186T>G
ENST00000682288.1:c.*3035T>G	ENSP00000507506.1:n.*3035T>G
ENST00000682442.1:n.5039T>G
ENST00000682528.1:n.4896T>G
ENST00000682673.1:n.4763T>G
ENST00000682805.1:n.5224T>G
ENST00000682965.1:c.*1026T>G	ENSP00000508229.1:n.*1026T>G
ENST00000683093.1:n.5799T>G
ENST00000683136.1:c.4487T>G	ENSP00000507768.1:p.Ile1496Ser
ENST00000683153.1:n.4861T>G
ENST00000683365.1:n.4921T>G
ENST00000683377.1:n.4715T>G
ENST00000683456.1:c.*1741T>G	ENSP00000508318.1:n.*1741T>G
ENST00000683522.1:n.4901T>G
ENST00000683562.1:c.*2669T>G	ENSP00000508265.1:n.*2669T>G
ENST00000683693.1:n.6280T>G
ENST00000683725.1:c.*69T>G	ENSP00000507496.1:n.*69T>G
ENST00000684010.1:n.4814T>G
ENST00000684014.1:n.791T>G
ENST00000684157.1:n.5804T>G
ENST00000684253.1:n.4722T>G
ENST00000684288.1:c.*2776T>G	ENSP00000507143.1:n.*2776T>G
ENST00000684313.1:n.4251T>G
ENST00000684332.1:n.4892T>G
ENST00000684371.1:n.4925T>G
ENST00000684404.1:n.5847T>G
ENST00000684442.1:n.5043T>G
ENST00000684555.1:c.*2816T>G	ENSP00000507705.1:n.*2816T>G
ENST00000684571.1:c.4445T>G	ENSP00000506935.1:p.Ile1482Ser
ENST00000684593.1:c.*4309T>G	ENSP00000507005.1:n.*4309T>G
ENST00000684711.1:c.*3000T>G	ENSP00000506841.1:n.*3000T>G
ENST00000302539.9:c.4607T>G	ENSP00000303960.4:p.Ile1536Ser
ENST00000389817.8:c.4604T>G MANE Select	ENSP00000374467.4:p.Ile1535Ser
ENST00000642271.1:c.4601T>G	ENSP00000493749.1:p.Ile1534Ser
ENST00000642579.1:c.2658T>G
ENST00000642611.1:n.5822T>G
ENST00000642902.1:c.4386T>G
ENST00000643260.1:c.4604T>G	ENSP00000494450.1:p.Ile1535Ser
ENST00000643562.1:c.*2726T>G	ENSP00000496124.1:n.*2726T>G
ENST00000643925.1:c.3185+565T>G
ENST00000644057.1:n.763T>G
ENST00000644484.1:c.*3990T>G	ENSP00000493558.1:n.*3990T>G
ENST00000644675.1:c.*2776T>G	ENSP00000494567.1:n.*2776T>G
ENST00000644757.1:c.*3203-721T>G	ENSP00000495085.1:n.*3203-721T>G
ENST00000644772.1:c.4670T>G	ENSP00000494321.1:p.Ile1557Ser
ENST00000645004.1:n.2297T>G
ENST00000645076.1:c.3699T>G
ENST00000645417.1:c.1792T>G
ENST00000645744.1:c.*4289T>G	ENSP00000494564.1:n.*4289T>G
ENST00000645760.1:c.5025T>G
ENST00000645884.1:c.*1887T>G	ENSP00000495516.1:n.*1887T>G
ENST00000646003.1:c.*2626T>G	ENSP00000495259.1:n.*2626T>G
ENST00000646207.1:c.*3441T>G	ENSP00000495025.1:n.*3441T>G
ENST00000646276.1:c.*4008T>G	ENSP00000496070.1:n.*4008T>G
ENST00000646592.1:c.3910T>G
ENST00000646902.1:c.4571T>G	ENSP00000494101.1:p.Ile1524Ser
ENST00000646993.1:c.*3042T>G	ENSP00000493720.1:n.*3042T>G
ENST00000647015.1:c.4355T>G	ENSP00000495389.1:p.Ile1452Ser
ENST00000647086.1:c.*4190T>G	ENSP00000493677.1:n.*4190T>G
ENST00000647158.1:c.*2891T>G	ENSP00000495744.1:n.*2891T>G
ENST00000302539.8:c.4607T>G	ENSP00000303960.4:p.Ile1536Ser
ENST00000389817.7:c.4604T>G	ENSP00000374467.3:p.Ile1535Ser
ENST00000525022.1:n.499T>G
ENST00000526037.5:n.364T>G
ENST00000526168.5:c.392T>G
ENST00000531642.5:c.635T>G
NM_000352.4:c.4604T>G	NP_000343.2:p.Ile1535Ser
NM_001287174.1:c.4607T>G	NP_001274103.1:p.Ile1536Ser
XM_011520331.1:c.4604T>G	XP_011518633.1:p.Ile1535Ser
XM_011520333.1:c.3104T>G	XP_011518635.1:p.Ile1035Ser
XR_930890.1:n.4566T>G
NM_001351295.1:c.4670T>G	NP_001338224.1:p.Ile1557Ser
NM_001351296.1:c.4604T>G	NP_001338225.1:p.Ile1535Ser
NM_001351297.1:c.4601T>G	NP_001338226.1:p.Ile1534Ser
NR_147094.1:n.4899T>G
XM_017018197.2:c.4673T>G	XP_016873686.1:p.Ile1558Ser
XM_017018199.1:c.4670T>G	XP_016873688.1:p.Ile1557Ser
XM_017018202.1:c.3170T>G	XP_016873691.1:p.Ile1057Ser
XM_017018204.1:c.2561T>G	XP_016873693.1:p.Ile854Ser
XM_024448668.1:c.2972T>G	XP_024304436.1:p.Ile991Ser
XR_001747945.2:n.4641T>G
XR_001747946.2:n.4572T>G
XR_002957189.1:n.6355T>G
NM_000352.6:c.4604T>G MANE Select	NP_000343.2:p.Ile1535Ser
NM_001287174.2:c.4607T>G	NP_001274103.1:p.Ile1536Ser
NM_001351295.2:c.4670T>G	NP_001338224.1:p.Ile1557Ser
NM_001351296.2:c.4604T>G	NP_001338225.1:p.Ile1535Ser
NM_001351297.2:c.4601T>G	NP_001338226.1:p.Ile1534Ser
NR_147094.2:n.4899T>G
NM_001287174.3:c.4607T>G	NP_001274103.1:p.Ile1536Ser