Canonical Allele Identifier: CA379787446

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417259A>C (hg19) ; chr11:g.17395712A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395712A>C , CM000673.2:g.17395712A>C	GRCh38
NC_000011.9:g.17417259A>C , CM000673.1:g.17417259A>C	GRCh37
NC_000011.8:g.17373835A>C	NCBI36
NG_008867.1:g.86191T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3806T>G
ENST00000528374.2:c.796T>G
ENST00000529967.6:n.2544T>G
ENST00000532220.2:n.3438T>G
ENST00000642611.2:n.5538T>G
ENST00000644057.2:n.781T>G
ENST00000645004.2:n.1704T>G
ENST00000682051.1:n.4367T>G
ENST00000682110.1:n.4420T>G
ENST00000682140.1:c.4071T>G	ENSP00000507829.1:p.His1357Gln
ENST00000682185.1:n.5510T>G
ENST00000682204.1:c.*2343T>G	ENSP00000507094.1:n.*2343T>G
ENST00000682215.1:n.4787T>G
ENST00000682288.1:c.*2636T>G	ENSP00000507506.1:n.*2636T>G
ENST00000682442.1:n.4640T>G
ENST00000682528.1:n.4497T>G
ENST00000682673.1:n.4364T>G
ENST00000682805.1:n.4825T>G
ENST00000682965.1:c.*627T>G	ENSP00000508229.1:n.*627T>G
ENST00000683093.1:n.5504T>G
ENST00000683136.1:c.4088T>G	ENSP00000507768.1:p.Ile1363Ser
ENST00000683153.1:n.4462T>G
ENST00000683365.1:n.4522T>G
ENST00000683377.1:n.4420T>G
ENST00000683456.1:c.*1342T>G	ENSP00000508318.1:n.*1342T>G
ENST00000683522.1:n.4420T>G
ENST00000683562.1:c.*2374T>G	ENSP00000508265.1:n.*2374T>G
ENST00000683693.1:n.5985T>G
ENST00000683725.1:c.4205T>G	ENSP00000507496.1:p.Ile1402Ser
ENST00000684010.1:n.4415T>G
ENST00000684157.1:n.5405T>G
ENST00000684253.1:n.4323T>G
ENST00000684288.1:c.*2377T>G	ENSP00000507143.1:n.*2377T>G
ENST00000684313.1:n.3852T>G
ENST00000684332.1:n.4493T>G
ENST00000684371.1:n.4526T>G
ENST00000684404.1:n.5448T>G
ENST00000684442.1:n.4644T>G
ENST00000684555.1:c.*2417T>G	ENSP00000507705.1:n.*2417T>G
ENST00000684571.1:c.4046T>G	ENSP00000506935.1:p.Ile1349Ser
ENST00000684593.1:c.*3910T>G	ENSP00000507005.1:n.*3910T>G
ENST00000684711.1:c.*2601T>G	ENSP00000506841.1:n.*2601T>G
ENST00000302539.9:c.4208T>G	ENSP00000303960.4:p.Ile1403Ser
ENST00000389817.8:c.4205T>G MANE Select	ENSP00000374467.4:p.Ile1402Ser
ENST00000642271.1:c.4202T>G	ENSP00000493749.1:p.Ile1401Ser
ENST00000642579.1:c.2259T>G
ENST00000642611.1:n.5423T>G
ENST00000642902.1:c.3987T>G
ENST00000643260.1:c.4205T>G	ENSP00000494450.1:p.Ile1402Ser
ENST00000643562.1:c.*2327T>G	ENSP00000496124.1:n.*2327T>G
ENST00000643925.1:c.2845T>G
ENST00000644057.1:n.282T>G
ENST00000644484.1:c.*3591T>G	ENSP00000493558.1:n.*3591T>G
ENST00000644675.1:c.*2377T>G	ENSP00000494567.1:n.*2377T>G
ENST00000644757.1:c.*3202+552T>G	ENSP00000495085.1:n.*3202+552T>G
ENST00000644772.1:c.4271T>G	ENSP00000494321.1:p.Ile1424Ser
ENST00000645004.1:n.1898T>G
ENST00000645076.1:c.3404T>G
ENST00000645417.1:c.1393T>G
ENST00000645744.1:c.*3964-74T>G	ENSP00000494564.1:n.*3964-74T>G
ENST00000645760.1:c.4626T>G
ENST00000645884.1:c.*1488T>G	ENSP00000495516.1:n.*1488T>G
ENST00000646003.1:c.*2301-74T>G	ENSP00000495259.1:n.*2301-74T>G
ENST00000646207.1:c.*3042T>G	ENSP00000495025.1:n.*3042T>G
ENST00000646276.1:c.*3609T>G	ENSP00000496070.1:n.*3609T>G
ENST00000646592.1:c.3511T>G
ENST00000646902.1:c.4172T>G	ENSP00000494101.1:p.Ile1391Ser
ENST00000646993.1:c.*2747T>G	ENSP00000493720.1:n.*2747T>G
ENST00000647013.1:c.4211T>G	ENSP00000496741.1:n.4211T>G
ENST00000647015.1:c.3956T>G	ENSP00000495389.1:p.Ile1319Ser
ENST00000647086.1:c.*3791T>G	ENSP00000493677.1:n.*3791T>G
ENST00000647158.1:c.*2492T>G	ENSP00000495744.1:n.*2492T>G
ENST00000302539.8:c.4208T>G	ENSP00000303960.4:p.Ile1403Ser
ENST00000389817.7:c.4205T>G	ENSP00000374467.3:p.Ile1402Ser
ENST00000525022.1:n.204T>G
ENST00000526037.5:n.69T>G
ENST00000526168.5:c.67-74T>G
ENST00000531642.5:c.41T>G
NM_000352.4:c.4205T>G	NP_000343.2:p.Ile1402Ser
NM_001287174.1:c.4208T>G	NP_001274103.1:p.Ile1403Ser
XM_011520331.1:c.4205T>G	XP_011518633.1:p.Ile1402Ser
XM_011520332.1:c.4208T>G	XP_011518634.1:p.Ile1403Ser
XM_011520333.1:c.2705T>G	XP_011518635.1:p.Ile902Ser
XR_930890.1:n.4271T>G
NM_001351295.1:c.4271T>G	NP_001338224.1:p.Ile1424Ser
NM_001351296.1:c.4205T>G	NP_001338225.1:p.Ile1402Ser
NM_001351297.1:c.4202T>G	NP_001338226.1:p.Ile1401Ser
NR_147094.1:n.4500T>G
XM_017018197.2:c.4274T>G	XP_016873686.1:p.Ile1425Ser
XM_017018199.1:c.4271T>G	XP_016873688.1:p.Ile1424Ser
XM_017018201.2:c.4274T>G	XP_016873690.1:p.Ile1425Ser
XM_017018202.1:c.2771T>G	XP_016873691.1:p.Ile924Ser
XM_017018204.1:c.2162T>G	XP_016873693.1:p.Ile721Ser
XM_024448668.1:c.2573T>G	XP_024304436.1:p.Ile858Ser
XR_001747945.2:n.4346T>G
XR_001747946.2:n.4277T>G
XR_002957189.1:n.6060T>G
NM_000352.6:c.4205T>G MANE Select	NP_000343.2:p.Ile1402Ser
NM_001287174.2:c.4208T>G	NP_001274103.1:p.Ile1403Ser
NM_001351295.2:c.4271T>G	NP_001338224.1:p.Ile1424Ser
NM_001351296.2:c.4205T>G	NP_001338225.1:p.Ile1402Ser
NM_001351297.2:c.4202T>G	NP_001338226.1:p.Ile1401Ser
NR_147094.2:n.4500T>G
NM_001287174.3:c.4208T>G	NP_001274103.1:p.Ile1403Ser